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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/CA345151718/MONDO:0100084/147/el/0/1747/1749", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA345151718/MONDO:0100084/147/ci/CA345151718/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": "Multiple lines of computational evidence support a deleterious effect with on the gene or gene product including a REVEL score >0.7 as specified in VCEP's PP3 criteria", "contributionDate": { "date": "2025/6/26", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", 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diminished reflexes, hypertonia and spasticity.\" In PMID: 19562689 patient with variant was diagnosed with NMR.", "contributionDate": { "date": "2025/6/26", "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": "CA345151718/MONDO:0100084/147/ci/CA345151718/MONDO:0100084/147.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA345151718/MONDO:0100084/147/0/1633/1635", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA345151718/MONDO:0100084/147/1/1634", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA345151718/MONDO:0100084/147/0/1633", "type": "EvidenceLine" }, { "@id": 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