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      "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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                          "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:32865313).\n",
                        "contributionDate": {
                          "date": "2026/1/16",
                          "description": "Date on which this evidence was provided"
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                        "contributionRole": {
                          "@id": "https://obofoundry.org/sepio/0000156",
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                          "label": "curator role",
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                        "type": "Contribution"
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                    ],
                    "id": "CA23577160/MONDO:0100368/120/ci/CA23577160/MONDO:0100368/120.002",
                    "type": "InfFromBkgrndSciKnow"
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                ],
                "id": "CG-PCER-VARINT:CA23577160/MONDO:0100368/120/0/1678/1680",
                "type": "EvidenceLine"
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            ],
            "id": "CG-PCER-VARINT:CA23577160/MONDO:0100368/120/1/1679",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA23577160/MONDO:0100368/120/0/1678",
        "type": "EvidenceLine"
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                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50082_EP170326324571166",
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                  "type": "Agent"
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                "contributionDate": {
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                  "description": "Date on which this evidence was provided"
                },
                "contributionRole": {
                  "@id": "https://obofoundry.org/sepio/0000156",
                  "id": "SEPIO:0000516",
                  "label": "curator role",
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                "type": "Contribution"
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            ],
            "evidenceLine": [
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                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA23577160/MONDO:0100368/120/el/0/1636/1638",
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                          "id": "CG-PCER-AGENT:CG_50082_EP170326324571166",
                          "type": "Agent"
                        },
                        "comments": "This variant is absent from gnomAD v4.1.0 (PM2_Supporting).\n",
                        "contributionDate": {
                          "date": "2026/1/16",
                          "description": "Date on which this evidence was provided"
                        },
                        "contributionRole": {
                          "@id": "https://obofoundry.org/sepio/0000156",
                          "id": "SEPIO:0000516",
                          "label": "curator role",
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                        "type": "Contribution"
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                    ],
                    "id": "CA23577160/MONDO:0100368/120/ci/CA23577160/MONDO:0100368/120.002",
                    "type": "InfFromBkgrndSciKnow"
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                ],
                "id": "CG-PCER-VARINT:CA23577160/MONDO:0100368/120/0/1636/1638",
                "type": "EvidenceLine"
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            ],
            "id": "CG-PCER-VARINT:CA23577160/MONDO:0100368/120/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA23577160/MONDO:0100368/120/0/1636",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA23577160/MONDO:0100368/120/el/0/1651",
        "evidenceItem": [
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            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA23577160/MONDO:0100368/120/ei/1/1652",
            "contribution": [
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                  "type": "Agent"
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                  "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": [
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                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA23577160/MONDO:0100368/120/el/0/1651/1653",
                "evidenceItem": [
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                          "id": "CG-PCER-AGENT:CG_50082_EP170326324571166",
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                        "comments": "This variant has been reported in 1 proband with early-onset severe retinal dystrophy who was compound heterozygous with the p.Arg91Gln variant confirmed in trans (PMIDs: 32865313, 30268864), which was previously classified pathogenic by the ClinGen LCA / eoRD VCEP (1 point). A second proband was compound heterozygous with the p.Tyr122Ter variant confirmed in trans (unpublished), which was previously classified likely pathogenic by the ClinGen LCA / eoRD VCEP (1 point). (2 total points, PM3_Strong.)\n",
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                          "date": "2026/1/16",
                          "description": "Date on which this evidence was provided"
                        },
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                          "@id": "https://obofoundry.org/sepio/0000156",
                          "id": "SEPIO:0000516",
                          "label": "curator role",
                          "type": "ContributoryRole"
                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA23577160/MONDO:0100368/120/ci/CA23577160/MONDO:0100368/120.002",
                    "type": "InfFromBkgrndSciKnow"
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                ],
                "id": "CG-PCER-VARINT:CA23577160/MONDO:0100368/120/0/1651/1653",
                "type": "EvidenceLine"
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            ],
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            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
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          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA23577160/MONDO:0100368/120/0/1651",
        "type": "EvidenceLine"
      },
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        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA23577160/MONDO:0100368/120/el/0/1690",
        "evidenceItem": [
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            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA23577160/MONDO:0100368/120/ei/1/1691",
            "contribution": [
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                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50082_EP170326324571166",
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                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/1/16",
                  "description": "Date on which this evidence was provided"
                },
                "contributionRole": {
                  "@id": "https://obofoundry.org/sepio/0000156",
                  "id": "SEPIO:0000516",
                  "label": "curator role",
                  "type": "ContributoryRole"
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                "type": "Contribution"
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                "evidenceItem": [
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                          "id": "CG-PCER-AGENT:CG_50082_EP170326324571166",
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                        "comments": "The computational predictor REVEL gives a score of 0.98, which is above the ClinGen LCA / eoRD VCEP threshold of ≥0.773 and predicts a damaging effect on RPE65 function (PP3_Moderate).\n",
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                      }
                    ],
                    "id": "CA23577160/MONDO:0100368/120/ci/CA23577160/MONDO:0100368/120.002",
                    "type": "InfFromBkgrndSciKnow"
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                ],
                "id": "CG-PCER-VARINT:CA23577160/MONDO:0100368/120/0/1690/1692",
                "type": "EvidenceLine"
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            ],
            "id": "CG-PCER-VARINT:CA23577160/MONDO:0100368/120/1/1691",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA23577160/MONDO:0100368/120/0/1690",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA23577160/MONDO:0100368/120",
    "metadata": {
      "created": "2026-01-16T21:44:08.949Z",
      "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, 16 Jan 2026 21:44:08 -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": "49d41313-de36-426a-9803-666f66b5674f",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA23577160",
      "id": "CAR:CA23577160",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000329.3:c.137G>A"
            }
          ],
          "preferred": true
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-11-03T14:12:33.688Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}