{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://cgerepoapi/evrepo/api/summary/classification/c6e31e31-fd57-4bb1-af09-e057b9a6ccda/doc/sepio/version/1.0.0",
    "assertionMethod": {
      "type": "VariantPathogenicityInterpretationGuideline"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0007947",
      "id": "MONDO:0007947",
      "label": "Marfan syndrome",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA392335588/MONDO:0007947/022/el/0/1636",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA392335588/MONDO:0007947/022/ei/1/1637",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50046_EP166990693852948",
                  "id": "CG-PCER-AGENT:CG_50046_EP166990693852948",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2023/12/29",
                  "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"
              }
            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/0030",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000329",
                "id": "SEPIO:0000329",
                "label": "Pathogenic Supporting"
              },
              "id": "0030",
              "label": "PM2",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA392335588/MONDO:0007947/022/el/0/1636/1638",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA392335588/MONDO:0007947/022/ci/CA392335588/MONDO:0007947/022.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50046_EP166990693852948",
                          "id": "CG-PCER-AGENT:CG_50046_EP166990693852948",
                          "type": "Agent"
                        },
                        "comments": "Absent in gnomAD",
                        "contributionDate": {
                          "date": "2023/12/29",
                          "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": "CA392335588/MONDO:0007947/022/ci/CA392335588/MONDO:0007947/022.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA392335588/MONDO:0007947/022/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA392335588/MONDO:0007947/022/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA392335588/MONDO:0007947/022/0/1636",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA392335588/MONDO:0007947/022/el/0/1606",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA392335588/MONDO:0007947/022/ei/1/1607",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50046_EP166990693852948",
                  "id": "CG-PCER-AGENT:CG_50046_EP166990693852948",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2023/12/29",
                  "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"
              }
            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/0032",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000329",
                "id": "SEPIO:0000329",
                "label": "Pathogenic Supporting"
              },
              "id": "0032",
              "label": "PS4",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA392335588/MONDO:0007947/022/el/0/1606/1608",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA392335588/MONDO:0007947/022/ci/CA392335588/MONDO:0007947/022.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50046_EP166990693852948",
                          "id": "CG-PCER-AGENT:CG_50046_EP166990693852948",
                          "type": "Agent"
                        },
                        "comments": " 1 individual with ectopia lentis and thoracic aortic aneurysm",
                        "contributionDate": {
                          "date": "2023/12/29",
                          "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": "CA392335588/MONDO:0007947/022/ci/CA392335588/MONDO:0007947/022.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA392335588/MONDO:0007947/022/0/1606/1608",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA392335588/MONDO:0007947/022/1/1607",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA392335588/MONDO:0007947/022/0/1606",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA392335588/MONDO:0007947/022/el/0/1672",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA392335588/MONDO:0007947/022/ei/1/1673",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50046_EP166990693852948",
                  "id": "CG-PCER-AGENT:CG_50046_EP166990693852948",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2023/12/29",
                  "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"
              }
            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/0010",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000216",
                "id": "SEPIO:0000216",
                "label": "Pathogenic Moderate"
              },
              "id": "0010",
              "label": "PM6",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA392335588/MONDO:0007947/022/el/0/1672/1674",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA392335588/MONDO:0007947/022/ci/CA392335588/MONDO:0007947/022.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50046_EP166990693852948",
                          "id": "CG-PCER-AGENT:CG_50046_EP166990693852948",
                          "type": "Agent"
                        },
                        "comments": "1 individual with highly specific phenotype, without parental confirmation",
                        "contributionDate": {
                          "date": "2023/12/29",
                          "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": "CA392335588/MONDO:0007947/022/ci/CA392335588/MONDO:0007947/022.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA392335588/MONDO:0007947/022/0/1672/1674",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA392335588/MONDO:0007947/022/1/1673",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA392335588/MONDO:0007947/022/0/1672",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA392335588/MONDO:0007947/022/el/0/1585",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA392335588/MONDO:0007947/022/ei/1/1586",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50046_EP166990693852948",
                  "id": "CG-PCER-AGENT:CG_50046_EP166990693852948",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2023/12/29",
                  "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"
              }
            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/0028",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000330",
                "id": "SEPIO:0000330",
                "label": "Pathogenic Strong"
              },
              "id": "0028",
              "label": "PM1",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA392335588/MONDO:0007947/022/el/0/1585/1587",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA392335588/MONDO:0007947/022/ci/CA392335588/MONDO:0007947/022.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50046_EP166990693852948",
                          "id": "CG-PCER-AGENT:CG_50046_EP166990693852948",
                          "type": "Agent"
                        },
                        "comments": "Affects a cysteine residue in a calcium binding EGF domain \n",
                        "contributionDate": {
                          "date": "2023/12/29",
                          "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": "CA392335588/MONDO:0007947/022/ci/CA392335588/MONDO:0007947/022.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA392335588/MONDO:0007947/022/0/1585/1587",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA392335588/MONDO:0007947/022/1/1586",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA392335588/MONDO:0007947/022/0/1585",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA392335588/MONDO:0007947/022/el/0/1837",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA392335588/MONDO:0007947/022/ei/1/1838",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50046_EP166990693852948",
                  "id": "CG-PCER-AGENT:CG_50046_EP166990693852948",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2023/12/29",
                  "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"
              }
            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/0061",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000329",
                "id": "SEPIO:0000329",
                "label": "Pathogenic Supporting"
              },
              "id": "0061",
              "label": "PP2",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA392335588/MONDO:0007947/022/el/0/1837/1839",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA392335588/MONDO:0007947/022/ci/CA392335588/MONDO:0007947/022.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50046_EP166990693852948",
                          "id": "CG-PCER-AGENT:CG_50046_EP166990693852948",
                          "type": "Agent"
                        },
                        "comments": "z-score is 5.06 ",
                        "contributionDate": {
                          "date": "2023/12/29",
                          "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": "CA392335588/MONDO:0007947/022/ci/CA392335588/MONDO:0007947/022.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA392335588/MONDO:0007947/022/0/1837/1839",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA392335588/MONDO:0007947/022/1/1838",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA392335588/MONDO:0007947/022/0/1837",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA392335588/MONDO:0007947/022/el/0/1747",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA392335588/MONDO:0007947/022/ei/1/1748",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50046_EP166990693852948",
                  "id": "CG-PCER-AGENT:CG_50046_EP166990693852948",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2023/12/29",
                  "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"
              }
            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/0062",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000329",
                "id": "SEPIO:0000329",
                "label": "Pathogenic Supporting"
              },
              "id": "0062",
              "label": "PP3",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA392335588/MONDO:0007947/022/el/0/1747/1749",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA392335588/MONDO:0007947/022/ci/CA392335588/MONDO:0007947/022.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50046_EP166990693852948",
                          "id": "CG-PCER-AGENT:CG_50046_EP166990693852948",
                          "type": "Agent"
                        },
                        "comments": "REVEL=0.98 (>0.75 Threshold)",
                        "contributionDate": {
                          "date": "2023/12/29",
                          "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": "CA392335588/MONDO:0007947/022/ci/CA392335588/MONDO:0007947/022.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA392335588/MONDO:0007947/022/0/1747/1749",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA392335588/MONDO:0007947/022/1/1748",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA392335588/MONDO:0007947/022/0/1747",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA392335588/MONDO:0007947/022/el/0/1633",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA392335588/MONDO:0007947/022/ei/1/1634",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50046_EP166990693852948",
                  "id": "CG-PCER-AGENT:CG_50046_EP166990693852948",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2023/12/29",
                  "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"
              }
            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/0063",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000329",
                "id": "SEPIO:0000329",
                "label": "Pathogenic Supporting"
              },
              "id": "0063",
              "label": "PP4",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA392335588/MONDO:0007947/022/el/0/1633/1635",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA392335588/MONDO:0007947/022/ci/CA392335588/MONDO:0007947/022.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50046_EP166990693852948",
                          "id": "CG-PCER-AGENT:CG_50046_EP166990693852948",
                          "type": "Agent"
                        },
                        "contributionDate": {
                          "date": "2023/12/29",
                          "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": "CA392335588/MONDO:0007947/022/ci/CA392335588/MONDO:0007947/022.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA392335588/MONDO:0007947/022/0/1633/1635",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA392335588/MONDO:0007947/022/1/1634",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA392335588/MONDO:0007947/022/0/1633",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA392335588/MONDO:0007947/022",
    "metadata": {
      "created": "2024-09-28T03:35:13.317Z",
      "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": "Sat, 28 Sep 2024 03:35:13 -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": "c6e31e31-fd57-4bb1-af09-e057b9a6ccda",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA392335588",
      "id": "CAR:CA392335588",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000138.5:c.2287T>G"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000138.5(FBN1):c.2287T>G (p.Cys763Gly)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-11-02T23:39:21.057Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}