{ "data": { "@context": "https://erepo.genome.network/evrepo/api/context", "@id": "https://cgerepoapi/evrepo/api/summary/classification/330a8e63-9235-4c9a-afc2-d05f0bf9cc33/doc/sepio/version/2.0.0", "assertionMethod": { "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637580", "label": "ClinGen Myeloid Malignancy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RUNX1 Version 3.1.0", "type": "VariantPathogenicityInterpretationGuideline", "version": "3.1.0" }, "condition": { "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0011071", "id": "MONDO:0011071", "label": "hereditary thrombocytopenia and hematologic cancer predisposition syndrome", "type": "GeneticCondition" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1672", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/ei/1/1673", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1672/1674", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "comments": "This rule cannot be applied since, to our knowledge, we have no information about segregation reported in any study.", "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1672/1674", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/1/1673", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1672", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1594", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/ei/1/1595", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1594/1596", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "comments": "This rule cannot be applied since this is a missense variant.", "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1594/1596", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/1/1595", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1594", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1684", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/ei/1/1685", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1684/1686", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "comments": "This rule cannot be applied since this missense variant does not have a REVEL score <0.50 (0.957).", "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1684/1686", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/1/1685", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1684", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1789", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/ei/1/1790", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1789/1791", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "comments": "The MMVCEP does not evaluate this rule.", "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1789/1791", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/1/1790", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1789", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1597", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/ei/1/1598", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1597/1599", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "comments": "This variant is detected in a homozygous state in an individual (BP2; PMID: 28855357).", "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1597/1599", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/1/1598", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1597", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1777", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/ei/1/1778", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1777/1779", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "comments": "This rule cannot be applied since the variant is completely absent from all population databases.", "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1777/1779", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/1/1778", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1777", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1717", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/ei/1/1718", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1717/1719", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "comments": "The MMVCEP does not evaluate this rule.", "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1717/1719", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/1/1718", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1717", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1780", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/ei/1/1781", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1780/1782", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "comments": "This variant is a missense change at the same residue (p.Lys110Gln), where two or more (3) different missense changes have been previously established as likely pathogenic (ClinVar ID: 1518631 and ClinGen: CA410203418, and ClinVar ID: 561234 and ClinGen: CA410203419) and pathogenic variants (ClinVar ID: 14465 and ClinGen: CA248613) based on MM-VCEP rules for RUNX1 and RNA data. Additionally, agreement in splicing predictors (SSF and MES) shows no splicing effects (PM5_Strong). However, this rule is not applicable in combination with PM1.", "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1780/1782", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/1/1781", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1780", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1591", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/ei/1/1592", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1591/1593", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "comments": "This rule cannot be applied since this is a missense variant.", "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1591/1593", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/1/1592", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1591", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1636", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/ei/1/1637", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1636/1638", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "comments": "This variant is completely absent from all population databases (gnomAD v2.1.1, v3.1.2, and v4.0.0) with at least 20x coverage for RUNX1 (PM2_supporting).", "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1636/1638", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/1/1637", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1636", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1606", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/ei/1/1607", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1606/1608", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "comments": "This variant has been reported in one proband meeting at least one of the RUNX1-phenotypic criteria (PS4_ Supporting; PMID: 28855357).", "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1606/1608", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/1/1607", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1606", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1804", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/ei/1/1805", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1804/1806", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "comments": "This rule cannot be applied since the variant is completely absent from all population databases.", "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1804/1806", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/1/1805", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1804", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1768", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/ei/1/1769", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1768/1770", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "comments": "This rule cannot be applied since, to our knowledge, we have no information about segregation in the reported study.", "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1768/1770", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/1/1769", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1768", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1588", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/ei/1/1589", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1588/1590", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "comments": "To our knowledge, no in vitro or in vivo functional studies are available for this variant.", "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1588/1590", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/1/1589", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1588", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1579", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/ei/1/1580", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1579/1581", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "comments": "The MMVCEP does not evaluate this rule.", "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1579/1581", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/1/1580", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1579", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1654", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/ei/1/1655", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1654/1656", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "comments": "This rule cannot be applied since this is a missense variant.", "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1654/1656", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/1/1655", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1654", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1765", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/ei/1/1766", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1765/1767", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "comments": "This rule cannot be applied because, to our knowledge, this missense variant does not result in the same amino acid change as a previously identified pathogenic variant, regardless of nucleotide change.", "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1765/1767", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/1/1766", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1765", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1663", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/ei/1/1664", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1663/1665", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "comments": "This rule cannot be applied since, to our knowledge, we have no information about segregation reported in any study.", "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1663/1665", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/1/1664", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1663", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1828", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/ei/1/1829", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1828/1830", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "comments": "To our knowledge, no in vitro or in vivo functional studies are available for this variant.", "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1828/1830", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/1/1829", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1828", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1585", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/ei/1/1586", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1585/1587", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "comments": "This variant affects one of the hotspot residues established by the MM-VCEP in the RHD: K110 (PM1_strong).", "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1585/1587", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/1/1586", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1585", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1678", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/ei/1/1679", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1678/1680", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "comments": "This rule cannot be applied since, to our knowledge, we have no information about cosegregation in the reported study.", "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1678/1680", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/1/1679", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1678", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1837", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/ei/1/1838", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1837/1839", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "comments": "The MMVCEP does not evaluate this rule.", "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1837/1839", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/1/1838", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1837", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1747", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/ei/1/1748", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1747/1749", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "comments": "This missense variant has a REVEL score >0.88 (0.957) (PP3).", "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1747/1749", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/1/1748", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1747", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1633", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/ei/1/1634", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1633/1635", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "comments": "The MMVCEP does not evaluate this rule.", "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1633/1635", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/1/1634", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1633", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1702", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/ei/1/1703", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410203432/MONDO:0011071/008/el/0/1702/1704", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "comments": "The MMVCEP does not evaluate this rule.", "contributionDate": { "date": "2026/4/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA410203432/MONDO:0011071/008/ci/CA410203432/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1702/1704", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/1/1703", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008/0/1702", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410203432/MONDO:0011071/008", "metadata": { "created": "2026-04-29T21:11:30.610Z", "note": "DISCLAIMER: While the data/content in this document is approved by ClinGen expert panel(s), the SEPIO schema presented here is an initial prototype and has not been reviewed nor finalized by the ClinGen Data Exchange Modeling Team. We expect it to differ significantly from the final schema.", "producedAtUTC": "Wed, 29 Apr 2026 21:11:30 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "2.0.0" }, "statementOutcome": { "@id": "https://loinc.org/LA26332-9", "id": "LN:LA26332-9", "label": "Likely Pathogenic" }, "type": "VariantPathogenicityInterpretation", "uuid": "330a8e63-9235-4c9a-afc2-d05f0bf9cc33", "variant": { "@id": "https://reg.genome.network/allele/CA410203432", "id": "CAR:CA410203432", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_001754.5:c.328A>C" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_001754.5(RUNX1):c.328A>C (p.Lys110Gln)" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-11-05T22:51:08.718Z" } }, "status": { "code": 200, "name": "OK" } }