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Variant looked like WT. See Fig 12 (https://escholarship.mcgill.ca/concern/theses/mw22vc17n)", "contributionDate": { "date": "2026/3/23", "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": "CA390869397/MONDO:0100216/024/ci/CA390869397/MONDO:0100216/024.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA390869397/MONDO:0100216/024/0/1588/1590", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA390869397/MONDO:0100216/024/1/1589", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA390869397/MONDO:0100216/024/0/1588", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390869397/MONDO:0100216/024/el/0/1654", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390869397/MONDO:0100216/024/ei/1/1655", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50050_EP165729564243098", "id": "CG-PCER-AGENT:CG_50050_EP165729564243098", "type": "Agent" }, "contributionDate": { "date": "2026/3/23", "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/CA390869397/MONDO:0100216/024/el/0/1654/1656", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA390869397/MONDO:0100216/024/ci/CA390869397/MONDO:0100216/024.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50050_EP165729564243098", "id": "CG-PCER-AGENT:CG_50050_EP165729564243098", "type": "Agent" }, "contributionDate": { "date": "2026/3/23", "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": "CA390869397/MONDO:0100216/024/ci/CA390869397/MONDO:0100216/024.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA390869397/MONDO:0100216/024/0/1654/1656", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA390869397/MONDO:0100216/024/1/1655", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA390869397/MONDO:0100216/024/0/1654", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA390869397/MONDO:0100216/024", "metadata": { "created": "2026-03-24T20:17:54.743Z", "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": "Tue, 24 Mar 2026 20:17:54 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "1.1.0" }, "statementOutcome": { "@id": "https://loinc.org/LA26333-7", "id": "LN:LA26333-7", "label": "Uncertain Significance" }, "type": "VariantPathogenicityInterpretation", "uuid": "d99efc02-b33a-43ca-ab46-adbf89b1bb85", "variant": { "@id": "https://reg.genome.network/allele/CA390869397", "id": "CAR:CA390869397", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_177438.3:c.4313A>G" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_177438.3(DICER1):c.4313A>G (p.Tyr1438Cys)" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-05-16T22:41:49.366Z" } }, "status": { "code": 200, "name": "OK" } }