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}, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA345151235/MONDO:0100084/147/ci/CA345151235/MONDO:0100084/147.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA345151235/MONDO:0100084/147/0/1747/1749", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA345151235/MONDO:0100084/147/1/1748", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA345151235/MONDO:0100084/147/0/1747", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA345151235/MONDO:0100084/147/el/0/1636", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA345151235/MONDO:0100084/147/ei/1/1637", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50031_EP172779037880653", "id": "CG-PCER-AGENT:CG_50031_EP172779037880653", "type": "Agent" }, "contributionDate": { "date": "2024/12/12", "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/CA345151235/MONDO:0100084/147/el/0/1636/1638", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA345151235/MONDO:0100084/147/ci/CA345151235/MONDO:0100084/147.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50031_EP172779037880653", "id": "CG-PCER-AGENT:CG_50031_EP172779037880653", "type": "Agent" }, "comments": "This variant is absent from gnomAD v4.1 (PM2_Supporting).", "contributionDate": { "date": "2024/12/12", "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": "CA345151235/MONDO:0100084/147/ci/CA345151235/MONDO:0100084/147.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA345151235/MONDO:0100084/147/0/1636/1638", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA345151235/MONDO:0100084/147/1/1637", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA345151235/MONDO:0100084/147/0/1636", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA345151235/MONDO:0100084/147", "metadata": { "created": "2024-12-20T22:36:44.999Z", "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": "Fri, 20 Dec 2024 22:36:44 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "1.0.0" }, "statementOutcome": { "@id": "https://loinc.org/LA6668-3", "id": "LN:LA6668-3", "label": "Pathogenic" }, "type": "VariantPathogenicityInterpretation", "uuid": "ac6e8233-e5c6-4ff0-b854-961d3d2c5944", "variant": { "@id": "https://reg.genome.network/allele/CA345151235", "id": "CAR:CA345151235", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_001100.4:c.124C>T" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_001100.4(ACTA1):c.124C>T (p.His42Tyr)" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-10-30T13:45:14.984Z" } }, "status": { "code": 200, "name": "OK" } }