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Phase not confirmed. LP, according to SCID VCEP specifications, 0.25pts.\n\nPMID: 32307643: Patient is compound heterozygous with c.986C > T, p.A329V, Likely Pathogenic according to SCI VCEP specifications: Phase was not reported: 0.25pts. \n\nNo homozygous was found in the literature. \nThe total is 2 pts, which is PM3_Strong.\n\t", "contributionDate": { "date": "2026/5/20", "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": "CA252013/MONDO:0007064/114/ci/CA252013/MONDO:0007064/114.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA252013/MONDO:0007064/114/0/1651/1653", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA252013/MONDO:0007064/114/1/1652", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": 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"CG-PCER-VARINT:CA252013/MONDO:0007064/114/0/1597", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA252013/MONDO:0007064/114/el/0/1777", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA252013/MONDO:0007064/114/ei/1/1778", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/5/20", "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/CA252013/MONDO:0007064/114/el/0/1777/1779", "evidenceItem": [ { "@id": 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"CG-PCER-VARINT:CA252013/MONDO:0007064/114/0/1777", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA252013/MONDO:0007064/114", "metadata": { "created": "2026-05-20T19:52:35.714Z", "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, 20 May 2026 19:52:35 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "1.1.0" }, "statementOutcome": { "@id": "https://loinc.org/LA26332-9", "id": "LN:LA26332-9", "label": "Likely Pathogenic" }, "type": "VariantPathogenicityInterpretation", "uuid": "9b0a8ddd-77c8-4aea-8b15-77dc875dcb7e", "variant": { "@id": "https://reg.genome.network/allele/CA252013", "id": "CAR:CA252013", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_000022.4:c.872C>T" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_000022.4(ADA):c.872C>T (p.Ser291Leu)" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-10-28T10:53:50.069Z" } }, "status": { "code": 200, "name": "OK" } }