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                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50031_EP172779037880653",
                          "id": "CG-PCER-AGENT:CG_50031_EP172779037880653",
                          "type": "Agent"
                        },
                        "comments": "One proband with centronuclear myopathy presented with predominantly distal muscle weakness, ptosis, ophthalmoplegia/paresis, facial weakness, weak deep tendon reflexes, stepping gait, central nuclei, fiber hypotrophy, and Type 1 fiber predominance (0.25pts; PMID: 22396310).",
                        "contributionDate": {
                          "date": "2025/9/19",
                          "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": "CA404039368/MONDO:0018947/148/ci/CA404039368/MONDO:0018947/148.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA404039368/MONDO:0018947/148/0/1606/1608",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA404039368/MONDO:0018947/148/1/1607",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA404039368/MONDO:0018947/148/0/1606",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA404039368/MONDO:0018947/148",
    "metadata": {
      "created": "2025-09-19T07:57:29.429Z",
      "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": "Fri, 19 Sep 2025 07:57:29 -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": "2422e9c5-0079-408f-87b1-69444c139744",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA404039368",
      "id": "CAR:CA404039368",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_001005361.3:c.1564C>T"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_001005361.3(DNM2):c.1564C>T (p.Arg522Cys)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-31T22:39:09.022Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}