{
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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 1.0.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "1.0.0"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0100368",
      "id": "MONDO:0100368",
      "label": "RPE65-related recessive retinopathy",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
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        "evidenceItem": [
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                  "label": "curator role",
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                },
                "type": "Contribution"
              }
            ],
            "criterion": {
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                "@id": "https://obofoundry.org/sepio/SEPIO:0000220",
                "id": "SEPIO:0000220",
                "label": "Pathogenic Very Strong"
              },
              "id": "0017",
              "label": "PVS1",
              "type": "Criterion"
            },
            "evidenceLine": [
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            ],
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        ],
        "evidenceStrength": {
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        },
        "id": "CG-PCER-VARINT:CA2573132571/MONDO:0100368/120/0/1594",
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      },
      {
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                "type": "Contribution"
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            ],
            "criterion": {
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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/CA2573132571/MONDO:0100368/120/el/0/1678/1680",
                "evidenceItem": [
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                          "id": "CG-PCER-AGENT:CG_50082_EP170326324571166",
                          "type": "Agent"
                        },
                        "comments": "The variant has been reported to segregate with childhood-onset severe retinal dystrophy through the proband plus 1 similarly affected relative, with the variant present in the compound heterozygous state (PP1; PMID: 28130426).",
                        "contributionDate": {
                          "date": "2024/4/22",
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                        "type": "Contribution"
                      }
                    ],
                    "id": "CA2573132571/MONDO:0100368/120/ci/CA2573132571/MONDO:0100368/120.002",
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                "id": "CG-PCER-VARINT:CA2573132571/MONDO:0100368/120/0/1678/1680",
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            ],
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            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA2573132571/MONDO:0100368/120/0/1678",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2573132571/MONDO:0100368/120/el/0/1633",
        "evidenceItem": [
          {
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                  "label": "curator role",
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                "type": "Contribution"
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            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/0063",
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                "id": "SEPIO:0000329",
                "label": "Pathogenic Supporting"
              },
              "id": "0063",
              "label": "PP4",
              "type": "Criterion"
            },
            "evidenceLine": [
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            },
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        "id": "CG-PCER-VARINT:CA2573132571/MONDO:0100368/120/0/1633",
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                },
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                  "label": "curator role",
                  "type": "ContributoryRole"
                },
                "type": "Contribution"
              }
            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/007",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000216",
                "id": "SEPIO:0000216",
                "label": "Pathogenic Moderate"
              },
              "id": "007",
              "label": "PM3",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2573132571/MONDO:0100368/120/el/0/1717/1719",
                "evidenceItem": [
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                "id": "CG-PCER-VARINT:CA2573132571/MONDO:0100368/120/0/1717/1719",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA2573132571/MONDO:0100368/120/1/1718",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA2573132571/MONDO:0100368/120/0/1717",
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                  "label": "curator role",
                  "type": "ContributoryRole"
                },
                "type": "Contribution"
              }
            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/0030",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000329",
                "id": "SEPIO:0000329",
                "label": "Pathogenic Supporting"
              },
              "id": "0030",
              "label": "PM2",
              "type": "Criterion"
            },
            "evidenceLine": [
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                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2573132571/MONDO:0100368/120/el/0/1636/1638",
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                          "label": "curator role",
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                      }
                    ],
                    "id": "CA2573132571/MONDO:0100368/120/ci/CA2573132571/MONDO:0100368/120.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA2573132571/MONDO:0100368/120/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA2573132571/MONDO:0100368/120/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA2573132571/MONDO:0100368/120/0/1636",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA2573132571/MONDO:0100368/120",
    "metadata": {
      "created": "2024-09-28T04:28:54.509Z",
      "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": "Sat, 28 Sep 2024 04:28:54 -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": "bb754561-67bc-43f7-8fb6-5a8960491fe7",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA2573132571",
      "id": "CAR:CA2573132571",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000329.3:c.1360del"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000329.3(RPE65):c.1360del (p.Thr454fs)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-04-19T05:30:34.810Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}