{
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      "type": "VariantPathogenicityInterpretationGuideline",
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    },
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      "id": "MONDO:0010880",
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      "type": "GeneticCondition"
    },
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              }
            ],
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                          "date": "2025/12/28",
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            ],
            "id": "CG-PCER-VARINT:CA384897717/MONDO:0010880/135/1/1700",
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            "type": "CriterionAssessment"
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                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA384897717/MONDO:0010880/135/el/0/1780/1782",
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                          "id": "CG-PCER-AGENT:CG_50037_EP171050563120248",
                          "type": "Agent"
                        },
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                        },
                        "type": "Contribution"
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                    ],
                    "id": "CA384897717/MONDO:0010880/135/ci/CA384897717/MONDO:0010880/135.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA384897717/MONDO:0010880/135/0/1780/1782",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA384897717/MONDO:0010880/135/1/1781",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA384897717/MONDO:0010880/135/0/1780",
        "type": "EvidenceLine"
      },
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        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA384897717/MONDO:0010880/135/el/0/1747",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA384897717/MONDO:0010880/135/ei/1/1748",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50037_EP171050563120248",
                  "id": "CG-PCER-AGENT:CG_50037_EP171050563120248",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/12/28",
                  "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/CA384897717/MONDO:0010880/135/el/0/1747/1749",
                "evidenceItem": [
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                          "id": "CG-PCER-AGENT:CG_50037_EP171050563120248",
                          "type": "Agent"
                        },
                        "comments": "The computational predictor REVEL gives a score of 0.917 which is above the threshold of 0.644, evidence that correlates with impact to ACVRL1 function (PP3).",
                        "contributionDate": {
                          "date": "2025/12/28",
                          "description": "Date on which this evidence was provided"
                        },
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                          "label": "curator role",
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                        },
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                    ],
                    "id": "CA384897717/MONDO:0010880/135/ci/CA384897717/MONDO:0010880/135.002",
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                ],
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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:CA384897717/MONDO:0010880/135/0/1747",
        "type": "EvidenceLine"
      },
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              {
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                },
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                  "date": "2025/12/28",
                  "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": "https://erepo.genome.network/evrepo/api/interpretation/CA384897717/MONDO:0010880/135/el/0/1636/1638",
                "evidenceItem": [
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                        },
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                          "description": "Date on which this evidence was provided"
                        },
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                          "label": "curator role",
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                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA384897717/MONDO:0010880/135/ci/CA384897717/MONDO:0010880/135.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA384897717/MONDO:0010880/135/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA384897717/MONDO:0010880/135/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA384897717/MONDO:0010880/135/0/1636",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA384897717/MONDO:0010880/135",
    "metadata": {
      "created": "2025-12-28T15:44:52.621Z",
      "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": "Sun, 28 Dec 2025 15:44:52 -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": "be352399-737d-4670-8f97-6e2043ab9fd9",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA384897717",
      "id": "CAR:CA384897717",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000020.3:c.151T>G"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000020.3(ACVRL1):c.151T>G (p.Cys51Gly)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-11-05T21:59:41.011Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}