{
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      "label": "ClinGen Leber Congenital Amaurosis/early onset Retinal Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for CEP290 Version 1.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "1.0"
    },
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      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0100451",
      "id": "MONDO:0100451",
      "label": "CEP290-related ciliopathy",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
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                },
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                  "description": "Date on which this evidence was provided"
                },
                "contributionRole": {
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                  "id": "SEPIO:0000516",
                  "label": "curator role",
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                },
                "type": "Contribution"
              }
            ],
            "evidenceLine": [
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                        "contributionDate": {
                          "date": "2026/7/21",
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                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA385971165/MONDO:0100451/226/ci/CA385971165/MONDO:0100451/226.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA385971165/MONDO:0100451/226/0/1594/1596",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA385971165/MONDO:0100451/226/1/1595",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA385971165/MONDO:0100451/226/0/1594",
        "type": "EvidenceLine"
      },
      {
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        "evidenceItem": [
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            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA385971165/MONDO:0100451/226/ei/1/1637",
            "contribution": [
              {
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                  "id": "CG-PCER-AGENT:CG_50082_EP170326324571166",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/7/21",
                  "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": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA385971165/MONDO:0100451/226/el/0/1636/1638",
                "evidenceItem": [
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                    "@id": "CG-PCER:curatorInference/CA385971165/MONDO:0100451/226/ci/CA385971165/MONDO:0100451/226.002",
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                          "type": "Agent"
                        },
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                        "contributionDate": {
                          "date": "2026/7/21",
                          "description": "Date on which this evidence was provided"
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                          "id": "SEPIO:0000516",
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                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA385971165/MONDO:0100451/226/ci/CA385971165/MONDO:0100451/226.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA385971165/MONDO:0100451/226/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA385971165/MONDO:0100451/226/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA385971165/MONDO:0100451/226/0/1636",
        "type": "EvidenceLine"
      },
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        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA385971165/MONDO:0100451/226/el/0/1609",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA385971165/MONDO:0100451/226/ei/1/1610",
            "contribution": [
              {
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                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50082_EP170326324571166",
                  "id": "CG-PCER-AGENT:CG_50082_EP170326324571166",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/7/21",
                  "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": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA385971165/MONDO:0100451/226/el/0/1609/1611",
                "evidenceItem": [
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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 NM_025114.4(CEP290):c.2991+1655A>G variant suspected in trans, which was previously classified pathogenic by the ClinGen LCA/eoRD VCEP (0.5 total points, PMID: 20683928, PM3_Supporting).",
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                          "description": "Date on which this evidence was provided"
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                        "contributionRole": {
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                          "id": "SEPIO:0000516",
                          "label": "curator role",
                          "type": "ContributoryRole"
                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA385971165/MONDO:0100451/226/ci/CA385971165/MONDO:0100451/226.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA385971165/MONDO:0100451/226/0/1609/1611",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA385971165/MONDO:0100451/226/1/1610",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
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            },
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          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA385971165/MONDO:0100451/226/0/1609",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA385971165/MONDO:0100451/226",
    "metadata": {
      "created": "2026-07-21T14:28:05.759Z",
      "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": "Tue, 21 Jul 2026 14:28:05 -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": "02c8435c-1a93-43e8-9b9e-0664e26d56b1",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA385971165",
      "id": "CAR:CA385971165",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_025114.4:c.2695C>T"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_025114.4(CEP290):c.2695C>T (p.Gln899Ter)"
        }
      ],
      "type": "CAR"
    }
  },
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    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-11-03T01:25:01.063Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}