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      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "1.0.0"
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      "id": "MONDO:0100438",
      "label": "AIPL1-related retinopathy",
      "type": "GeneticCondition"
    },
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                          "date": "2025/9/29",
                          "description": "Date on which this evidence was provided"
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            "statementOutcome": {
              "@id": "SEPIO:0000224",
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            },
            "type": "CriterionAssessment"
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        ],
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          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA397397594/MONDO:0100438/208/0/1636",
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                  "label": "curator role",
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                "type": "Contribution"
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                          "type": "Agent"
                        },
                        "comments": "This variant has also been reported in at least 2 probands with early-onset severe retinal dystrophy who were compound heterozygous with the p.Gln141Ter variant confirmed in trans (2 points, PMID: 31630094), which was previously classified pathogenic by the ClinGen LCA/eoRD VCEP (2 total points, PM3_Strong).",
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                ],
                "id": "CG-PCER-VARINT:CA397397594/MONDO:0100438/208/0/1651/1653",
                "type": "EvidenceLine"
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            ],
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              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
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        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA397397594/MONDO:0100438/208/0/1651",
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                  "description": "Date on which this evidence was provided"
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                  "id": "SEPIO:0000516",
                  "label": "curator role",
                  "type": "ContributoryRole"
                },
                "type": "Contribution"
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            ],
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                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA397397594/MONDO:0100438/208/el/0/1690/1692",
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                        "comments": "The computational predictor REVEL gives a score of 0.86, which is above the ClinGen LCA/eoRD VCEP threshold of ≥0.644 and predicts a damaging effect on AIPL1 protein function (PP3).\n",
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                    ],
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                ],
                "id": "CG-PCER-VARINT:CA397397594/MONDO:0100438/208/0/1690/1692",
                "type": "EvidenceLine"
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            ],
            "id": "CG-PCER-VARINT:CA397397594/MONDO:0100438/208/1/1691",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
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        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA397397594/MONDO:0100438/208/0/1690",
        "type": "EvidenceLine"
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    ],
    "id": "CG-PCER-VARINT:CA397397594/MONDO:0100438/208",
    "metadata": {
      "created": "2025-09-29T17:18:24.888Z",
      "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": "Mon, 29 Sep 2025 17:18:24 -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": "65489f0a-652a-4c5b-b304-54564ba497d3",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA397397594",
      "id": "CAR:CA397397594",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_014336.5:c.152A>G"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_014336.5(AIPL1):c.152A>G (p.Asp51Gly)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-11-01T07:15:03.653Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}