{ "data": { "@context": "https://erepo.genome.network/evrepo/api/context", "@id": "https://erepo.genome.network/evrepo/api/summary/classification/c20346bb-711e-4d5f-bf45-8f14822fa448/doc/sepio/version/3.0.0", "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/CA16602490/MONDO:0011071/008/el/0/1678", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA16602490/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/CA16602490/MONDO:0011071/008/el/0/1678/1680", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA16602490/MONDO:0011071/008/ci/CA16602490/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": "Segregation data for this variant has not been reported in literature. ", "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": "CA16602490/MONDO:0011071/008/ci/CA16602490/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA16602490/MONDO:0011071/008/0/1678/1680", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA16602490/MONDO:0011071/008/1/1679", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA16602490/MONDO:0011071/008/0/1678", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA16602490/MONDO:0011071/008/el/0/1837", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA16602490/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/CA16602490/MONDO:0011071/008/el/0/1837/1839", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA16602490/MONDO:0011071/008/ci/CA16602490/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 is not applicable for MM-VCEP.", "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": "CA16602490/MONDO:0011071/008/ci/CA16602490/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA16602490/MONDO:0011071/008/0/1837/1839", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA16602490/MONDO:0011071/008/1/1838", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA16602490/MONDO:0011071/008/0/1837", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA16602490/MONDO:0011071/008/el/0/1747", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA16602490/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/CA16602490/MONDO:0011071/008/el/0/1747/1749", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA16602490/MONDO:0011071/008/ci/CA16602490/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 (0.949) (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": "CA16602490/MONDO:0011071/008/ci/CA16602490/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA16602490/MONDO:0011071/008/0/1747/1749", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA16602490/MONDO:0011071/008/1/1748", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA16602490/MONDO:0011071/008/0/1747", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA16602490/MONDO:0011071/008/el/0/1633", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA16602490/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/CA16602490/MONDO:0011071/008/el/0/1633/1635", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA16602490/MONDO:0011071/008/ci/CA16602490/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": "Not applicable", "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": "CA16602490/MONDO:0011071/008/ci/CA16602490/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA16602490/MONDO:0011071/008/0/1633/1635", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA16602490/MONDO:0011071/008/1/1634", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA16602490/MONDO:0011071/008/0/1633", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA16602490/MONDO:0011071/008/el/0/1702", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA16602490/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/CA16602490/MONDO:0011071/008/el/0/1702/1704", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA16602490/MONDO:0011071/008/ci/CA16602490/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": "Not applicable", "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": "CA16602490/MONDO:0011071/008/ci/CA16602490/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA16602490/MONDO:0011071/008/0/1702/1704", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA16602490/MONDO:0011071/008/1/1703", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA16602490/MONDO:0011071/008/0/1702", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA16602490/MONDO:0011071/008/el/0/1636", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA16602490/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/CA16602490/MONDO:0011071/008/el/0/1636/1638", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA16602490/MONDO:0011071/008/ci/CA16602490/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 a MAF ≤ 0.00005 in gnomAD v4.0 in all subpopulations 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": "CA16602490/MONDO:0011071/008/ci/CA16602490/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA16602490/MONDO:0011071/008/0/1636/1638", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA16602490/MONDO:0011071/008/1/1637", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA16602490/MONDO:0011071/008/0/1636", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA16602490/MONDO:0011071/008/el/0/1684", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA16602490/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/CA16602490/MONDO:0011071/008/el/0/1684/1686", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA16602490/MONDO:0011071/008/ci/CA16602490/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 does not have a REVEL score < 0.50. ", "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": "CA16602490/MONDO:0011071/008/ci/CA16602490/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA16602490/MONDO:0011071/008/0/1684/1686", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA16602490/MONDO:0011071/008/1/1685", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA16602490/MONDO:0011071/008/0/1684", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA16602490/MONDO:0011071/008/el/0/1789", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA16602490/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/CA16602490/MONDO:0011071/008/el/0/1789/1791", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA16602490/MONDO:0011071/008/ci/CA16602490/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 is not applicable for MM-VCEP.", "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": "CA16602490/MONDO:0011071/008/ci/CA16602490/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA16602490/MONDO:0011071/008/0/1789/1791", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA16602490/MONDO:0011071/008/1/1790", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA16602490/MONDO:0011071/008/0/1789", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA16602490/MONDO:0011071/008/el/0/1726", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA16602490/MONDO:0011071/008/ei/1/1727", "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/CA16602490/MONDO:0011071/008/el/0/1726/1728", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA16602490/MONDO:0011071/008/ci/CA16602490/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 is not applicable for MM-VCEP.", "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": "CA16602490/MONDO:0011071/008/ci/CA16602490/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA16602490/MONDO:0011071/008/0/1726/1728", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA16602490/MONDO:0011071/008/1/1727", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA16602490/MONDO:0011071/008/0/1726", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA16602490/MONDO:0011071/008/el/0/1597", "evidenceItem": [ { "@id": 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"comments": "This variant has not been observed in trans with a pathogenic variant for a fully penetrant dominant gene/disorder or observed in cis with a pathogenic variant in any inheritance pattern.", "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": "CA16602490/MONDO:0011071/008/ci/CA16602490/MONDO:0011071/008.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA16602490/MONDO:0011071/008/0/1597/1599", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA16602490/MONDO:0011071/008/1/1598", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA16602490/MONDO:0011071/008/0/1597", "type": "EvidenceLine" }, { 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"id": "CG-PCER-VARINT:CA16602490/MONDO:0011071/008", "metadata": { "created": "2026-04-29T21:12:13.951Z", "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 21:12:13 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "3.0.0" }, "statementOutcome": { "@id": "https://loinc.org/LA26332-9", "id": "LN:LA26332-9", "label": "Likely Pathogenic" }, "type": "VariantPathogenicityInterpretation", "uuid": "c20346bb-711e-4d5f-bf45-8f14822fa448", "variant": { "@id": "https://reg.genome.network/allele/CA16602490", "id": "CAR:CA16602490", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_001754.5:c.485G>A" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_001754.5(RUNX1):c.485G>A (p.Arg162Lys)" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-06-03T17:39:38.474Z" } }, "status": { "code": 200, "name": "OK" } }