{
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      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "1.0.0"
    },
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      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0010725",
      "id": "MONDO:0010725",
      "label": "X-linked retinoschisis",
      "type": "GeneticCondition"
    },
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        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA226853/MONDO:0010725/126/el/0/1735",
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                  "description": "Date on which this evidence was provided"
                },
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            ],
            "evidenceLine": [
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                          "type": "Agent"
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                        "comments": "This variant has been reported in at least 1 proband meeting the PS4 requirement of a male with some functional vision impairment by age 5 (PMIDs: 9618178). However, PS4_Supporting requires at least 2 unrelated probands, so this criterion was not met.",
                        "contributionDate": {
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                      }
                    ],
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                    "type": "InfFromBkgrndSciKnow"
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                ],
                "id": "CG-PCER-VARINT:CA226853/MONDO:0010725/126/0/1735/1737",
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              }
            ],
            "id": "CG-PCER-VARINT:CA226853/MONDO:0010725/126/1/1736",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA226853/MONDO:0010725/126/0/1735",
        "type": "EvidenceLine"
      },
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        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA226853/MONDO:0010725/126/el/0/1594",
        "evidenceItem": [
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            "contribution": [
              {
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                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50086_EP174775864491222",
                  "id": "CG-PCER-AGENT:CG_50086_EP174775864491222",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/5/20",
                  "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/CA226853/MONDO:0010725/126/el/0/1594/1596",
                "evidenceItem": [
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                    "contribution": [
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                          "id": "CG-PCER-AGENT:CG_50086_EP174775864491222",
                          "type": "Agent"
                        },
                        "comments": "This is a nonsense variant that introduces a premature stop codon between amino acids 1-223 that is predicted to either trigger nonsense-mediated decay or to disrupt a critical C-terminal region required for proper multimerization of RS1 (PVS1, PMID: 19849666).",
                        "contributionDate": {
                          "date": "2025/5/20",
                          "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"
                      }
                    ],
                    "id": "CA226853/MONDO:0010725/126/ci/CA226853/MONDO:0010725/126.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA226853/MONDO:0010725/126/0/1594/1596",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA226853/MONDO:0010725/126/1/1595",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA226853/MONDO:0010725/126/0/1594",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA226853/MONDO:0010725/126/el/0/1636",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA226853/MONDO:0010725/126/ei/1/1637",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50086_EP174775864491222",
                  "id": "CG-PCER-AGENT:CG_50086_EP174775864491222",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/5/20",
                  "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/CA226853/MONDO:0010725/126/el/0/1636/1638",
                "evidenceItem": [
                  {
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                    "contribution": [
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                          "id": "CG-PCER-AGENT:CG_50086_EP174775864491222",
                          "type": "Agent"
                        },
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                        "contributionDate": {
                          "date": "2025/5/20",
                          "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"
                      }
                    ],
                    "id": "CA226853/MONDO:0010725/126/ci/CA226853/MONDO:0010725/126.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA226853/MONDO:0010725/126/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA226853/MONDO:0010725/126/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA226853/MONDO:0010725/126/0/1636",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA226853/MONDO:0010725/126",
    "metadata": {
      "created": "2025-05-20T17:04:21.305Z",
      "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, 20 May 2025 17:04:21 -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": "8819d4d3-e32b-47e4-8d78-3b6732ffee06",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA226853",
      "id": "CAR:CA226853",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000330.4:c.76G>T"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000330.4(RS1):c.76G>T (p.Glu26Ter)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-11-01T19:04:29.938Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}