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      "type": "GeneticCondition"
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        "id": "CG-PCER-VARINT:CA412370011/MONDO:0010725/126/0/1636",
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                  "label": "curator role",
                  "type": "ContributoryRole"
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                "type": "Contribution"
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            ],
            "evidenceLine": [
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                        },
                        "comments": "This variant p.Cys223Ser, of the RS1 gene, is defined as a critical amino acid residue involved in disulfide bridge formation by the ClinGen X-linked IRD VCEP (PMIDs: 26812435). The PM1_strong code is ineligible to be combined with PP3 at any strength, therefore, the PM1 code was not met.",
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                    "type": "InfFromBkgrndSciKnow"
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                "id": "CG-PCER-VARINT:CA412370011/MONDO:0010725/126/0/1615/1617",
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            "id": "CG-PCER-VARINT:CA412370011/MONDO:0010725/126/1/1616",
            "statementOutcome": {
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              "label": "Not Met"
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        ],
        "evidenceStrength": {
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        "id": "CG-PCER-VARINT:CA412370011/MONDO:0010725/126/0/1615",
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                        "comments": "Another missense variant in the same codon, NM_000330.4(RS1):c.667T>C (p.Cys223Arg), (PMIDs: 34645606, 10533068, 30652005, 33460243, 16361673) has been classified as pathogenic. However, the present variant has a lower Grantham’s distance(112) than the comparison variant (180), so PM5 cannot be met.",
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                    ],
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                  }
                ],
                "id": "CG-PCER-VARINT:CA412370011/MONDO:0010725/126/0/1780/1782",
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            ],
            "id": "CG-PCER-VARINT:CA412370011/MONDO:0010725/126/1/1781",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA412370011/MONDO:0010725/126/0/1780",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA412370011/MONDO:0010725/126",
    "metadata": {
      "created": "2025-09-19T04:35:45.823Z",
      "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 04:35:45 -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": "52bebde1-9f03-4961-843d-3bc4fcf8953b",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA412370011",
      "id": "CAR:CA412370011",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_003159.3:c.2714-3996C>G"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_003159.3:c.2714-3996C>G"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-29T05:12:57.088Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}