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                    "@id": "CG-PCER:curatorInference/CA226841/MONDO:0010725/126/ci/CA226841/MONDO:0010725/126.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50086_EP174775864491222",
                          "id": "CG-PCER-AGENT:CG_50086_EP174775864491222",
                          "type": "Agent"
                        },
                        "contributionDate": {
                          "date": "2025/10/5",
                          "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": "CA226841/MONDO:0010725/126/ci/CA226841/MONDO:0010725/126.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA226841/MONDO:0010725/126/0/1672/1674",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA226841/MONDO:0010725/126/1/1673",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA226841/MONDO:0010725/126/0/1672",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA226841/MONDO:0010725/126/el/0/1753",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA226841/MONDO:0010725/126/ei/1/1754",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50086_EP174775864491222",
                  "id": "CG-PCER-AGENT:CG_50086_EP174775864491222",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/10/5",
                  "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/CA226841/MONDO:0010725/126/el/0/1753/1755",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA226841/MONDO:0010725/126/ci/CA226841/MONDO:0010725/126.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50086_EP174775864491222",
                          "id": "CG-PCER-AGENT:CG_50086_EP174775864491222",
                          "type": "Agent"
                        },
                        "comments": "The computational predictor REVEL gives a score of 0.978, which is above the ClinGen X-linked IRD VCEP threshold of >0.932 and predicts a damaging effect on RS1 function (PP3_Strong). The computational splicing predictor SpliceAI gives a delta score of 0.00, which is below the ClinGen X-linked IRD VCEP threshold of ≥0.2 and does not predict that the variant disrupts RS1 splicing.",
                        "contributionDate": {
                          "date": "2025/10/5",
                          "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": "CA226841/MONDO:0010725/126/ci/CA226841/MONDO:0010725/126.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA226841/MONDO:0010725/126/0/1753/1755",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA226841/MONDO:0010725/126/1/1754",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA226841/MONDO:0010725/126/0/1753",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA226841/MONDO:0010725/126",
    "metadata": {
      "created": "2025-10-05T00:34:09.195Z",
      "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": "Sun, 05 Oct 2025 00:34:09 -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": "f559e124-d1f2-4d0e-b199-d15282691f6e",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA226841",
      "id": "CAR:CA226841",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000330.4:c.655T>C"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000330.4(RS1):c.655T>C (p.Cys219Arg)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-11-01T01:51:46.849Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}