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      "label": "ClinGen Leber Congenital Amaurosis/early onset Retinal Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RPE65 Version 1.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "1.0"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0100368",
      "id": "MONDO:0100368",
      "label": "RPE65-related recessive retinopathy",
      "type": "GeneticCondition"
    },
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            ],
            "id": "CG-PCER-VARINT:CA340750220/MONDO:0100368/120/1/1832",
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              "@id": "SEPIO:0000224",
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        ],
        "evidenceStrength": {
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        "id": "CG-PCER-VARINT:CA340750220/MONDO:0100368/120/0/1831",
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            ],
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                "id": "SEPIO:0000329",
                "label": "Pathogenic Supporting"
              },
              "id": "0060",
              "label": "PP1",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA340750220/MONDO:0100368/120/el/0/1678/1680",
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                        "contributionDate": {
                          "date": "2026/9/22",
                          "description": "Date on which this evidence was provided"
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                    ],
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            ],
            "id": "CG-PCER-VARINT:CA340750220/MONDO:0100368/120/1/1679",
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              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
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        ],
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        "id": "CG-PCER-VARINT:CA340750220/MONDO:0100368/120/0/1678",
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      },
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            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/0062",
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                "@id": "https://obofoundry.org/sepio/SEPIO:0000329",
                "id": "SEPIO:0000329",
                "label": "Pathogenic Supporting"
              },
              "id": "0062",
              "label": "PP3",
              "type": "Criterion"
            },
            "evidenceLine": [
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                        "comments": "The computational predictor REVEL gives a score of 0.553, which is below the ClinGen LCA/eoRD VCEP threshold of ≥0.644 and does not predict a damaging effect on RPE65 function. Additionally, the splicing impact predictor SpliceAI gives a score of 0, which is below the ClinGen LCA/eoRD VCEP recommended threshold of ≥0.2 and does not strongly predict an impact on splicing.\n",
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        ],
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              "@id": "https://obofoundry.org/sepio/clingen/0030",
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                "id": "SEPIO:0000329",
                "label": "Pathogenic Supporting"
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              "id": "0030",
              "label": "PM2",
              "type": "Criterion"
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            "evidenceLine": [
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                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA340750220/MONDO:0100368/120/el/0/1636/1638",
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            ],
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            },
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                        "comments": "This variant has been reported in at least 1 proband with early-onset severe retinal dystrophy who was compound heterozygous with the  c.65T>C (p.Leu22Pro) confirmed  in trans (1 point) which was previously classified pathogenic by the ClinGen LCA / eoRD VCEP (1.0 total points, PM3).\n",
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            ],
            "id": "CG-PCER-VARINT:CA340750220/MONDO:0100368/120/1/1718",
            "statementOutcome": {
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              "label": "Met"
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          }
        ],
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        },
        "id": "CG-PCER-VARINT:CA340750220/MONDO:0100368/120/0/1717",
        "type": "EvidenceLine"
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    ],
    "id": "CG-PCER-VARINT:CA340750220/MONDO:0100368/120",
    "metadata": {
      "created": "2026-10-15T19:02:13.766Z",
      "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 19:02:13 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.1.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA26332-9",
      "id": "LN:LA26332-9",
      "label": "Likely Pathogenic"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "7561359c-6530-4b00-a818-405ac597d9da",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA340750220",
      "id": "CAR:CA340750220",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000329.3:c.55G>A"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000329.3(RPE65):c.55G>A (p.Val19Met)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-11-04T21:22:32.195Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}