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"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/CA390878423/MONDO:0017288/024/el/0/1594/1596", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA390878423/MONDO:0017288/024/ci/CA390878423/MONDO:0017288/024.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50050_EP165729564243098", "id": "CG-PCER-AGENT:CG_50050_EP165729564243098", "type": "Agent" }, "comments": "Nonsense variant upstream of residue 1850; predicted to undergo NMD\n", "contributionDate": { "date": "2022/7/8", "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": "CA390878423/MONDO:0017288/024/ci/CA390878423/MONDO:0017288/024.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA390878423/MONDO:0017288/024/0/1594/1596", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA390878423/MONDO:0017288/024/1/1595", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA390878423/MONDO:0017288/024/0/1594", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA390878423/MONDO:0017288/024", "metadata": { "created": "2024-09-28T00:08:14.562Z", "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 00:08:14 -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": "a06f071b-cc61-42ee-8dcd-c4aad03f7af7", "variant": { "@id": "https://reg.genome.network/allele/CA390878423", "id": "CAR:CA390878423", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_177438.2:c.3019C>T" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_177438.2(DICER1):c.3019C>T (p.Gln1007Ter)" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-11-03T10:22:58.172Z" } }, "status": { "code": 200, "name": "OK" } }