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      "label": "ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GP1BB Version 1.0.0",
      "type": "VariantPathogenicityInterpretationGuideline",
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    },
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      "id": "MONDO:0009276",
      "label": "Bernard-Soulier syndrome",
      "type": "GeneticCondition"
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              "@id": "SEPIO:0000224",
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            },
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                    ],
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                ],
                "id": "CG-PCER-VARINT:CA410676172/MONDO:0009276/082/0/1636/1638",
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            ],
            "id": "CG-PCER-VARINT:CA410676172/MONDO:0009276/082/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
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          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA410676172/MONDO:0009276/082/0/1636",
        "type": "EvidenceLine"
      },
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                  "description": "Date on which this evidence was provided"
                },
                "contributionRole": {
                  "@id": "https://obofoundry.org/sepio/0000156",
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                  "label": "curator role",
                  "type": "ContributoryRole"
                },
                "type": "Contribution"
              }
            ],
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410676172/MONDO:0009276/082/el/0/1780/1782",
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                        },
                        "comments": "Met1Ile has also been reported in this gene but in heterozygous occurrence in macrothrombocytopenia (PMID: 28064200) so it is not considered here.",
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                          "description": "Date on which this evidence was provided"
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            ],
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              "label": "Not Met"
            },
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          }
        ],
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          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA410676172/MONDO:0009276/082/0/1780",
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                      }
                    ],
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                  }
                ],
                "id": "CG-PCER-VARINT:CA410676172/MONDO:0009276/082/0/1735/1737",
                "type": "EvidenceLine"
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            ],
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            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA410676172/MONDO:0009276/082/0/1735",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA410676172/MONDO:0009276/082",
    "metadata": {
      "created": "2025-02-14T21:37:09.164Z",
      "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, 14 Feb 2025 21:37:09 -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": "3ed97f3b-9c25-4bb1-be4c-64d4e6f5baa3",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA410676172",
      "id": "CAR:CA410676172",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000407.5:c.1A>T"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000407.5(GP1BB):c.1A>T (p.Met1Leu)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-11-05T16:20:12.001Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}