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"label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA279958/MONDO:0021060/048/el/0/1747/1749", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA279958/MONDO:0021060/048/ci/CA279958/MONDO:0021060/048.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50021_EP155190663717081", "id": "CG-PCER-AGENT:CG_50021_EP155190663717081", "type": "Agent" }, "comments": "The computational predictor REVEL gives a score of 0.959, predicting a damaging impact on protein function", "contributionDate": { "date": "2025/3/31", "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": "CA279958/MONDO:0021060/048/ci/CA279958/MONDO:0021060/048.002", "type": 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We expect it to differ significantly from the final schema.", "producedAtUTC": "Tue, 01 Apr 2025 16:38:43 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "2.0.0" }, "statementOutcome": { "@id": "https://loinc.org/LA6668-3", "id": "LN:LA6668-3", "label": "Pathogenic" }, "type": "VariantPathogenicityInterpretation", "uuid": "07aecf91-9cf2-48c7-b101-b21e809f57a4", "variant": { "@id": "https://reg.genome.network/allele/CA279958", "id": "CAR:CA279958", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_030662.4:c.170T>G" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_030662.4(MAP2K2):c.170T>G (p.Phe57Cys)" } ], "type": "CAR" } }, { "@context": "https://erepo.genome.network/evrepo/api/context", "@id": "https://cgerepoapi/evrepo/api/summary/classification/07aecf91-9cf2-48c7-b101-b21e809f57a4/doc/sepio/version/1.0.0", "assertionMethod": { "type": "VariantPathogenicityInterpretationGuideline" }, "condition": { "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0015280", "id": "MONDO:0015280", "label": "cardiofaciocutaneous syndrome", "type": "GeneticCondition" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA279958/MONDO:0015280/004/el/0/1615", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA279958/MONDO:0015280/004/ei/1/1616", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50021_EP155190663717081", "id": "CG-PCER-AGENT:CG_50021_EP155190663717081", "type": "Agent" }, "contributionDate": { "date": "2018/12/10", "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/CA279958/MONDO:0015280/004/el/0/1615/1617", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA279958/MONDO:0015280/004/ci/CA279958/MONDO:0015280/004.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50021_EP155190663717081", "id": "CG-PCER-AGENT:CG_50021_EP155190663717081", "type": "Agent" }, "comments": "Furthermore, the variant is in a location that has been defined by the ClinGen RASopathy Expert Panel to be a mutational hotspot or domain of MAP2K2 (PM1; 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We expect it to differ significantly from the final schema.", "producedAtUTC": "Fri, 27 Sep 2024 19:46:25 -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": "07aecf91-9cf2-48c7-b101-b21e809f57a4", "variant": { "@id": "https://reg.genome.network/allele/CA279958", "id": "CAR:CA279958", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_030662.3:c.170T>G" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_030662.3(MAP2K2):c.170T>G (p.Phe57Cys)" } ], "type": "CAR" } } ], "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-10-15T02:36:24.600Z" } }, "status": { "code": 200, "name": "OK" } }