{ "data": { "@context": "https://erepo.genome.network/evrepo/api/context", "@id": "https://erepo.genome.network/evrepo/api/summary/classification/7279e349-fac0-40be-9caf-43641b65ce38/doc/sepio/version/1.0.0", "assertionMethod": { "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637580", "label": "ClinGen Myeloid Malignancy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2", "type": "VariantPathogenicityInterpretationGuideline", "url": "https://www.clinicalgenome.org/affiliation/50034/docs/assertion-criteria ", "version": "2.0.0" }, "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/CA410148133/MONDO:0011071/008/el/0/1672", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/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": "2024/8/1", "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" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/0010", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000216", "id": "SEPIO:0000216", "label": "Pathogenic Moderate" }, "id": "0010", "label": "PM6", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/MONDO:0011071/008/el/0/1672/1674", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410148133/MONDO:0011071/008/ci/CA410148133/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, this variant has not been reported in any study.", "contributionDate": { "date": "2024/8/1", "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": "CA410148133/MONDO:0011071/008/ci/CA410148133/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/0/1672/1674", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/1/1673", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/0/1672", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/MONDO:0011071/008/el/0/1594", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/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": "2024/8/1", "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" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/0017", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000220", "id": "SEPIO:0000220", "label": "Pathogenic Very Strong" }, "id": "0017", "label": "PVS1", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/MONDO:0011071/008/el/0/1594/1596", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410148133/MONDO:0011071/008/ci/CA410148133/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.\n\n", "contributionDate": { "date": "2024/8/1", "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": "CA410148133/MONDO:0011071/008/ci/CA410148133/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/0/1594/1596", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/1/1595", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/0/1594", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/MONDO:0011071/008/el/0/1678", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/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": "2024/8/1", "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" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/0060", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000329", "id": "SEPIO:0000329", "label": "Pathogenic Supporting" }, "id": "0060", "label": "PP1", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/MONDO:0011071/008/el/0/1678/1680", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410148133/MONDO:0011071/008/ci/CA410148133/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, this variant has not been reported in any study and we have no information about its cosegregation with the disease.", "contributionDate": { "date": "2024/8/1", "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": "CA410148133/MONDO:0011071/008/ci/CA410148133/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/0/1678/1680", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/1/1679", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/0/1678", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/MONDO:0011071/008/el/0/1747", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/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": "2024/8/1", "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" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/0062", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000329", "id": "SEPIO:0000329", "label": "Pathogenic Supporting" }, "id": "0062", "label": "PP3", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/MONDO:0011071/008/el/0/1747/1749", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410148133/MONDO:0011071/008/ci/CA410148133/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 has not a REVEL score >0.88 (0.707).", "contributionDate": { "date": "2024/8/1", "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": "CA410148133/MONDO:0011071/008/ci/CA410148133/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/0/1747/1749", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/1/1748", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/0/1747", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/MONDO:0011071/008/el/0/1636", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/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": "2024/8/1", "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" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/0030", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000329", "id": "SEPIO:0000329", "label": "Pathogenic Supporting" }, "id": "0030", "label": "PM2", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/MONDO:0011071/008/el/0/1636/1638", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410148133/MONDO:0011071/008/ci/CA410148133/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 and v3.1.2) with at least 20x coverage for RUNX1 (PM2_supporting).", "contributionDate": { "date": "2024/8/1", "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": "CA410148133/MONDO:0011071/008/ci/CA410148133/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/0/1636/1638", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/1/1637", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/0/1636", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/MONDO:0011071/008/el/0/1684", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/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": "2024/8/1", "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" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/0080", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000327", "id": "SEPIO:0000327", "label": "Benign Supporting" }, "id": "0080", "label": "BP4", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/MONDO:0011071/008/el/0/1684/1686", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410148133/MONDO:0011071/008/ci/CA410148133/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 has not a REVEL score <0.50 (0.707).", "contributionDate": { "date": "2024/8/1", "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": "CA410148133/MONDO:0011071/008/ci/CA410148133/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/0/1684/1686", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/1/1685", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/0/1684", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/MONDO:0011071/008/el/0/1597", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/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": "2024/8/1", "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" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/0084", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000327", "id": "SEPIO:0000327", "label": "Benign Supporting" }, "id": "0084", "label": "BP2", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/MONDO:0011071/008/el/0/1597/1599", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410148133/MONDO:0011071/008/ci/CA410148133/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, this variant has not been reported in any study.", "contributionDate": { "date": "2024/8/1", "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": "CA410148133/MONDO:0011071/008/ci/CA410148133/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/0/1597/1599", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/1/1598", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/0/1597", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/MONDO:0011071/008/el/0/1777", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/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": "2024/8/1", "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" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/0087", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000325", "id": "SEPIO:0000325", "label": "Benign Stand Alone" }, "id": "0087", "label": "BA1", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/MONDO:0011071/008/el/0/1777/1779", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410148133/MONDO:0011071/008/ci/CA410148133/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": "2024/8/1", "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": "CA410148133/MONDO:0011071/008/ci/CA410148133/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/0/1777/1779", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/1/1778", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/0/1777", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/MONDO:0011071/008/el/0/1765", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/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": "2024/8/1", "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" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/0050", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000330", "id": "SEPIO:0000330", "label": "Pathogenic Strong" }, "id": "0050", "label": "PS1", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/MONDO:0011071/008/el/0/1765/1767", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410148133/MONDO:0011071/008/ci/CA410148133/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 generate the same amino acid change as a previously identified pathogenic variant regardless of nucleotide change.", "contributionDate": { "date": "2024/8/1", "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": "CA410148133/MONDO:0011071/008/ci/CA410148133/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/0/1765/1767", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/1/1766", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/0/1765", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/MONDO:0011071/008/el/0/1663", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/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": "2024/8/1", "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" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/0051", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000330", "id": "SEPIO:0000330", "label": "Pathogenic Strong" }, "id": "0051", "label": "PS2", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/MONDO:0011071/008/el/0/1663/1665", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410148133/MONDO:0011071/008/ci/CA410148133/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, this variant has not been reported in any study.", "contributionDate": { "date": "2024/8/1", "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": "CA410148133/MONDO:0011071/008/ci/CA410148133/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/0/1663/1665", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/1/1664", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/0/1663", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/MONDO:0011071/008/el/0/1828", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/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": "2024/8/1", "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" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/0052", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000330", "id": "SEPIO:0000330", "label": "Pathogenic Strong" }, "id": "0052", "label": "PS3", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/MONDO:0011071/008/el/0/1828/1830", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410148133/MONDO:0011071/008/ci/CA410148133/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": "2024/8/1", "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": "CA410148133/MONDO:0011071/008/ci/CA410148133/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/0/1828/1830", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/1/1829", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/0/1828", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/MONDO:0011071/008/el/0/1735", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/MONDO:0011071/008/ei/1/1736", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "contributionDate": { "date": "2024/8/1", "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" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/0053", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000330", "id": "SEPIO:0000330", "label": "Pathogenic Strong" }, "id": "0053", "label": "PS4", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/MONDO:0011071/008/el/0/1735/1737", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410148133/MONDO:0011071/008/ci/CA410148133/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, this variant has not been reported in any study. ", "contributionDate": { "date": "2024/8/1", "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": "CA410148133/MONDO:0011071/008/ci/CA410148133/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/0/1735/1737", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/1/1736", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/0/1735", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/MONDO:0011071/008/el/0/1615", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/MONDO:0011071/008/ei/1/1616", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50034_EP156503333731505", "id": "CG-PCER-AGENT:CG_50034_EP156503333731505", "type": "Agent" }, "contributionDate": { "date": "2024/8/1", "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" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/006", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000216", "id": "SEPIO:0000216", "label": "Pathogenic Moderate" }, "id": "006", "label": "PM1", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/MONDO:0011071/008/el/0/1615/1617", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410148133/MONDO:0011071/008/ci/CA410148133/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 affects amino acid residue 367, which is out of RHD or residues 89-204. ", "contributionDate": { "date": "2024/8/1", "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": "CA410148133/MONDO:0011071/008/ci/CA410148133/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/0/1615/1617", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/1/1616", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/0/1615", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/MONDO:0011071/008/el/0/1780", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/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": "2024/8/1", "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" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/008", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000216", "id": "SEPIO:0000216", "label": "Pathogenic Moderate" }, "id": "008", "label": "PM5", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/MONDO:0011071/008/el/0/1780/1782", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410148133/MONDO:0011071/008/ci/CA410148133/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 impact an amino acid residue where a different pathogenic missense change has previously been observed.", "contributionDate": { "date": "2024/8/1", "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": "CA410148133/MONDO:0011071/008/ci/CA410148133/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/0/1780/1782", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/1/1781", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/0/1780", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/MONDO:0011071/008/el/0/1591", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/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": "2024/8/1", "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" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/009", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000216", "id": "SEPIO:0000216", "label": "Pathogenic Moderate" }, "id": "009", "label": "PM4", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/MONDO:0011071/008/el/0/1591/1593", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410148133/MONDO:0011071/008/ci/CA410148133/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.\n\n", "contributionDate": { "date": "2024/8/1", "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": "CA410148133/MONDO:0011071/008/ci/CA410148133/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/0/1591/1593", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/1/1592", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/0/1591", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/MONDO:0011071/008/el/0/1804", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/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": "2024/8/1", "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" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/0070", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000328", "id": "SEPIO:0000328", "label": "Benign Strong" }, "id": "0070", "label": "BS1", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/MONDO:0011071/008/el/0/1804/1806", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410148133/MONDO:0011071/008/ci/CA410148133/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": "2024/8/1", "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": "CA410148133/MONDO:0011071/008/ci/CA410148133/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/0/1804/1806", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/1/1805", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/0/1804", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/MONDO:0011071/008/el/0/1768", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/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": "2024/8/1", "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" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/0071", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000328", "id": "SEPIO:0000328", "label": "Benign Strong" }, "id": "0071", "label": "BS4", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/MONDO:0011071/008/el/0/1768/1770", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410148133/MONDO:0011071/008/ci/CA410148133/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, this variant has not been reported in any study and we have no information about segregation.", "contributionDate": { "date": "2024/8/1", "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": "CA410148133/MONDO:0011071/008/ci/CA410148133/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/0/1768/1770", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/1/1769", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/0/1768", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/MONDO:0011071/008/el/0/1588", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/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": "2024/8/1", "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" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/0072", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000328", "id": "SEPIO:0000328", "label": "Benign Strong" }, "id": "0072", "label": "BS3", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/MONDO:0011071/008/el/0/1588/1590", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410148133/MONDO:0011071/008/ci/CA410148133/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": "2024/8/1", "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": "CA410148133/MONDO:0011071/008/ci/CA410148133/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/0/1588/1590", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/1/1589", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/0/1588", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/MONDO:0011071/008/el/0/1654", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/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": "2024/8/1", "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" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/0079", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000327", "id": "SEPIO:0000327", "label": "Benign Supporting" }, "id": "0079", "label": "BP7", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410148133/MONDO:0011071/008/el/0/1654/1656", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA410148133/MONDO:0011071/008/ci/CA410148133/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.\n\n", "contributionDate": { "date": "2024/8/1", "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": "CA410148133/MONDO:0011071/008/ci/CA410148133/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/0/1654/1656", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/1/1655", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008/0/1654", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA410148133/MONDO:0011071/008", "metadata": { "created": "2024-09-28T05:17:23.970Z", "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": "Sat, 28 Sep 2024 05:17:23 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "1.0.0" }, "statementOutcome": { "@id": "https://loinc.org/LA26333-7", "id": "LN:LA26333-7", "label": "Uncertain Significance" }, "type": "VariantPathogenicityInterpretation", "uuid": "7279e349-fac0-40be-9caf-43641b65ce38", "variant": { "@id": "https://reg.genome.network/allele/CA410148133", "id": "CAR:CA410148133", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_001754.5:c.1099G>C" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_001754.5(RUNX1):c.1099G>C (p.Gly367Arg)" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-05-13T15:09:23.712Z" } }, "status": { "code": 200, "name": "OK" } }