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      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "1.0"
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      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0100453",
      "id": "MONDO:0100453",
      "label": "GUCY2D-related recessive retinopathy",
      "type": "GeneticCondition"
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    "evidenceLine": [
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              "id": "0025",
              "label": "PP3",
              "type": "Criterion"
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            "evidenceLine": [
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        "id": "CG-PCER-VARINT:CA397945013/MONDO:0100453/167/0/1690",
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            ],
            "criterion": {
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                "label": "Pathogenic Moderate"
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              "id": "007",
              "label": "PM3",
              "type": "Criterion"
            },
            "evidenceLine": [
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                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA397945013/MONDO:0100453/167/el/0/1717/1719",
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                        "comments": "This variant has been reported in at least 2 unrelated probands with early-onset severe retinal dystrophy who were homozygous for the variant (1 point, PMIDs: 39939321, My Retina Tracker). This variant has also been reported in at least 1 proband(s) with early-onset severe retinal dystrophy who was compound heterozygous with the c.2660T>G p.Val887Gly variant confirmed in trans (0.25 points, Personal communication from VCEP member (EP)), which was previously classified as a variant of unknown significance by the ClinGen LCA/eoRD VCEP (1.25 total points, PM3).",
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            ],
            "id": "CG-PCER-VARINT:CA397945013/MONDO:0100453/167/1/1718",
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              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA397945013/MONDO:0100453/167/0/1717",
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      },
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                  "label": "curator role",
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            ],
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                "id": "SEPIO:0000329",
                "label": "Pathogenic Supporting"
              },
              "id": "0060",
              "label": "PP1",
              "type": "Criterion"
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            "evidenceLine": [
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        "id": "CG-PCER-VARINT:CA397945013/MONDO:0100453/167/0/1678",
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                "id": "SEPIO:0000329",
                "label": "Pathogenic Supporting"
              },
              "id": "0063",
              "label": "PP4",
              "type": "Criterion"
            },
            "evidenceLine": [
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                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA397945013/MONDO:0100453/167/el/0/1633/1635",
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                        "comments": "At least one proband harboring this variant exhibits a phenotype including a clinical diagnosis of LCA (0.5), absent rod electroretinogram (ERG) responses (0.5), evidence of cone involvement on ERG (1), nystagmus (1), and photophobia (1), optic nerve pallor (0.5), decreased central visual acuity (1) and decreased peripheral vision acuity (1), which together are specific for GUCY2D-related recessive retinopathy (6.5 total points, PMID: 39939324, personal communication from clinician, PP4).\n\n",
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        "id": "CG-PCER-VARINT:CA397945013/MONDO:0100453/167/0/1633",
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            ],
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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": "CG-PCER-VARINT:CA397945013/MONDO:0100453/167/1/1637",
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              "@id": "SEPIO:0000224",
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        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA397945013/MONDO:0100453/167/0/1636",
        "type": "EvidenceLine"
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    ],
    "id": "CG-PCER-VARINT:CA397945013/MONDO:0100453/167",
    "metadata": {
      "created": "2026-09-09T18:27:45.723Z",
      "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": "Wed, 09 Sep 2026 18:27:45 -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": "4a876cb6-7672-4b6b-9467-b01c61ec49b0",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA397945013",
      "id": "CAR:CA397945013",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000180.4:c.725T>G"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000180.4(GUCY2D):c.725T>G (p.Val242Gly)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-11-05T02:06:18.870Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}