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                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50031_EP172779037880653",
                          "id": "CG-PCER-AGENT:CG_50031_EP172779037880653",
                          "type": "Agent"
                        },
                        "comments": "This variant is absent from gnomAD v4.1.0 (PM2_Supporting). Coverage of the gene in the region in which this variant is found is adequate. ",
                        "contributionDate": {
                          "date": "2024/10/1",
                          "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": "CA271909/MONDO:0018947/149/ci/CA271909/MONDO:0018947/149.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA271909/MONDO:0018947/149/0/1804/1806",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA271909/MONDO:0018947/149/1/1805",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA271909/MONDO:0018947/149/0/1804",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA271909/MONDO:0018947/149/el/0/1747",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA271909/MONDO:0018947/149/ei/1/1748",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50031_EP172779037880653",
                  "id": "CG-PCER-AGENT:CG_50031_EP172779037880653",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2024/10/1",
                  "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/CA271909/MONDO:0018947/149/el/0/1747/1749",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA271909/MONDO:0018947/149/ci/CA271909/MONDO:0018947/149.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50031_EP172779037880653",
                          "id": "CG-PCER-AGENT:CG_50031_EP172779037880653",
                          "type": "Agent"
                        },
                        "comments": "The computational predictor REVEL gives a score of 0.968, which is above the Congenital Myopathies VCEP threshold of 0.7, evidence that correlates with impact to MTM1 function (PP3). This variant is also predicted to be damaging by several in-silico predictors. ",
                        "contributionDate": {
                          "date": "2024/10/1",
                          "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": "CA271909/MONDO:0018947/149/ci/CA271909/MONDO:0018947/149.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA271909/MONDO:0018947/149/0/1747/1749",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA271909/MONDO:0018947/149/1/1748",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA271909/MONDO:0018947/149/0/1747",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA271909/MONDO:0018947/149",
    "metadata": {
      "created": "2024-10-01T17:21:31.293Z",
      "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, 01 Oct 2024 17:21:31 -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": "63ca0364-f7f7-4ed4-8127-18f4feff245f",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA271909",
      "id": "CAR:CA271909",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000252.3:c.614C>T"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000252.3(MTM1):c.614C>T (p.Pro205Leu)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-04-12T14:04:42.119Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}