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                    "@id": "CG-PCER:curatorInference/CA415099025/MONDO:0018544/105/ci/CA415099025/MONDO:0018544/105.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50049_EP177618055787822",
                          "id": "CG-PCER-AGENT:CG_50049_EP177618055787822",
                          "type": "Agent"
                        },
                        "comments": "This variant has been assumed as a de novo occurrence with unconfirmed parental relationships in\none individual with X-linked adrenoleukodystrophy (PM6_Supporting; PMID:11336405).",
                        "contributionDate": {
                          "date": "2026/4/16",
                          "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": "CA415099025/MONDO:0018544/105/ci/CA415099025/MONDO:0018544/105.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA415099025/MONDO:0018544/105/0/1660/1662",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA415099025/MONDO:0018544/105/1/1661",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA415099025/MONDO:0018544/105/0/1660",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA415099025/MONDO:0018544/105/el/0/1648",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA415099025/MONDO:0018544/105/ei/1/1649",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50049_EP177618055787822",
                  "id": "CG-PCER-AGENT:CG_50049_EP177618055787822",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/4/16",
                  "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/CA415099025/MONDO:0018544/105/el/0/1648/1650",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA415099025/MONDO:0018544/105/ci/CA415099025/MONDO:0018544/105.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50049_EP177618055787822",
                          "id": "CG-PCER-AGENT:CG_50049_EP177618055787822",
                          "type": "Agent"
                        },
                        "comments": "The variant has been reported to segregate with X-linked adrenoleukodystrophy in eight affected\nfamily members from one family (PP1_Strong; PMID:11336405).",
                        "contributionDate": {
                          "date": "2026/4/16",
                          "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": "CA415099025/MONDO:0018544/105/ci/CA415099025/MONDO:0018544/105.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA415099025/MONDO:0018544/105/0/1648/1650",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA415099025/MONDO:0018544/105/1/1649",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA415099025/MONDO:0018544/105/0/1648",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA415099025/MONDO:0018544/105",
    "metadata": {
      "created": "2026-04-16T20:12:47.827Z",
      "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, 16 Apr 2026 20:12:47 -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": "406a976d-39fc-4a01-9ee3-4217c8056e9a",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA415099025",
      "id": "CAR:CA415099025",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000033.4:c.521A>G"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000033.4(ABCD1):c.521A>G (p.Tyr174Cys)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-31T06:52:00.076Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}