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        "id": "CG-PCER-VARINT:CA253885/MONDO:0019497/005/0/1828",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA253885/MONDO:0019497/005/el/0/1648",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA253885/MONDO:0019497/005/ei/1/1649",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139",
                  "id": "CG-PCER-AGENT:CG_50007_EP155190799758139",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/9/30",
                  "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"
              }
            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/0023",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000330",
                "id": "SEPIO:0000330",
                "label": "Pathogenic Strong"
              },
              "id": "0023",
              "label": "PP1",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA253885/MONDO:0019497/005/el/0/1648/1650",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA253885/MONDO:0019497/005/ci/CA253885/MONDO:0019497/005.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139",
                          "id": "CG-PCER-AGENT:CG_50007_EP155190799758139",
                          "type": "Agent"
                        },
                        "comments": "The variant has been reported to segregate with progressive, late-onset HL and concomitant vestibular dysfunction in 16 affected family members from 4 families. (PMID: 9806553, 16151339, 25780252, 42195045)",
                        "contributionDate": {
                          "date": "2026/9/30",
                          "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": "CA253885/MONDO:0019497/005/ci/CA253885/MONDO:0019497/005.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA253885/MONDO:0019497/005/0/1648/1650",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA253885/MONDO:0019497/005/1/1649",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA253885/MONDO:0019497/005/0/1648",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA253885/MONDO:0019497/005",
    "metadata": {
      "created": "2026-10-15T19:09:24.649Z",
      "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": "Thu, 15 Oct 2026 19:09:24 -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": "22c58c35-f743-4a68-82cd-2c83be83263f",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA253885",
      "id": "CAR:CA253885",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_004086.2:c.263G>A"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_004086.2(COCH):c.263G>A (p.Gly88Glu)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-31T04:23:02.560Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}