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Found to segregate with disease in multiple affected relatives.\n\nPMID 27906200- (UMD database)- Identified in a proband with features of MFS\nInvitae ClinVar entry- at least 1 individual with features of MFS\nAbsent in gnomAD, REVEL Score: 0.903\n", "contributionDate": { "date": "2023/12/29", "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": "CA392332017/MONDO:0007947/022/ci/CA392332017/MONDO:0007947/022.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA392332017/MONDO:0007947/022/0/1780/1782", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA392332017/MONDO:0007947/022/1/1781", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA392332017/MONDO:0007947/022/0/1780", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA392332017/MONDO:0007947/022", "metadata": { "created": "2024-09-28T03:35:26.024Z", "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 03:35:25 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "1.0.0" }, "statementOutcome": { "@id": "https://loinc.org/LA26332-9", "id": "LN:LA26332-9", "label": "Likely Pathogenic" }, "type": "VariantPathogenicityInterpretation", "uuid": "a3ae3431-d3c3-44cf-b1ea-6d1787d7e255", "variant": { "@id": "https://reg.genome.network/allele/CA392332017", "id": "CAR:CA392332017", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_000138.5:c.2660G>A" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_000138.5(FBN1):c.2660G>A (p.Cys887Tyr)" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-11-03T11:24:33.029Z" } }, "status": { "code": 200, "name": "OK" } }