{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://erepo.genome.network/evrepo/api/summary/classification/77516727-ce20-4572-a118-1fa6f09a2a32/doc/sepio/version/2.0.1",
    "assertionMethod": {
      "type": "VariantPathogenicityInterpretationGuideline"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0021060",
      "id": "MONDO:0021060",
      "label": "RASopathy",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA296087/MONDO:0021060/004/el/0/1798",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA296087/MONDO:0021060/004/ei/1/1799",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50021_EP155190663717081",
                  "id": "CG-PCER-AGENT:CG_50021_EP155190663717081",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2019/10/2",
                  "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/CA296087/MONDO:0021060/004/el/0/1798/1800",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA296087/MONDO:0021060/004/ci/CA296087/MONDO:0021060/004.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50021_EP155190663717081",
                          "id": "CG-PCER-AGENT:CG_50021_EP155190663717081",
                          "type": "Agent"
                        },
                        "comments": "Absent from gnomAD with high coverage.",
                        "contributionDate": {
                          "date": "2019/10/2",
                          "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": "CA296087/MONDO:0021060/004/ci/CA296087/MONDO:0021060/004.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA296087/MONDO:0021060/004/0/1798/1800",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA296087/MONDO:0021060/004/1/1799",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA296087/MONDO:0021060/004/0/1798",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA296087/MONDO:0021060/004/el/0/1837",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA296087/MONDO:0021060/004/ei/1/1838",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50021_EP155190663717081",
                  "id": "CG-PCER-AGENT:CG_50021_EP155190663717081",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2019/10/2",
                  "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/CA296087/MONDO:0021060/004/el/0/1837/1839",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA296087/MONDO:0021060/004/ci/CA296087/MONDO:0021060/004.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50021_EP155190663717081",
                          "id": "CG-PCER-AGENT:CG_50021_EP155190663717081",
                          "type": "Agent"
                        },
                        "comments": "KRAS is a missense-constrained gene.",
                        "contributionDate": {
                          "date": "2019/10/2",
                          "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": "CA296087/MONDO:0021060/004/ci/CA296087/MONDO:0021060/004.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA296087/MONDO:0021060/004/0/1837/1839",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA296087/MONDO:0021060/004/1/1838",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA296087/MONDO:0021060/004/0/1837",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA296087/MONDO:0021060/004/el/0/1735",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA296087/MONDO:0021060/004/ei/1/1736",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50021_EP155190663717081",
                  "id": "CG-PCER-AGENT:CG_50021_EP155190663717081",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2019/10/2",
                  "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/CA296087/MONDO:0021060/004/el/0/1735/1737",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA296087/MONDO:0021060/004/ci/CA296087/MONDO:0021060/004.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50021_EP155190663717081",
                          "id": "CG-PCER-AGENT:CG_50021_EP155190663717081",
                          "type": "Agent"
                        },
                        "comments": "Observed in 1 Irish/German/Bolivian/Czech/Jewish individual, 6 years old at time of testing, presenting with ptosis and pectus excavatum (PreventionGenetics internal data; SCV000310757.1). However, this information is not specific enough to apply PS4.",
                        "contributionDate": {
                          "date": "2019/10/2",
                          "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": "CA296087/MONDO:0021060/004/ci/CA296087/MONDO:0021060/004.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA296087/MONDO:0021060/004/0/1735/1737",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA296087/MONDO:0021060/004/1/1736",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA296087/MONDO:0021060/004/0/1735",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA296087/MONDO:0021060/004/el/0/1615",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA296087/MONDO:0021060/004/ei/1/1616",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50021_EP155190663717081",
                  "id": "CG-PCER-AGENT:CG_50021_EP155190663717081",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2019/10/2",
                  "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/CA296087/MONDO:0021060/004/el/0/1615/1617",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA296087/MONDO:0021060/004/ci/CA296087/MONDO:0021060/004.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50021_EP155190663717081",
                          "id": "CG-PCER-AGENT:CG_50021_EP155190663717081",
                          "type": "Agent"
                        },
                        "comments": "Does not occur at G12, G13, V14, T58, A59, G60, Q61, E62, or E63.",
                        "contributionDate": {
                          "date": "2019/10/2",
                          "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": "CA296087/MONDO:0021060/004/ci/CA296087/MONDO:0021060/004.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA296087/MONDO:0021060/004/0/1615/1617",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA296087/MONDO:0021060/004/1/1616",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA296087/MONDO:0021060/004/0/1615",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA296087/MONDO:0021060/004",
    "metadata": {
      "created": "2024-12-13T21:49:43.076Z",
      "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, 13 Dec 2024 21:49:42 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "2.0.1"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA26333-7",
      "id": "LN:LA26333-7",
      "label": "Uncertain Significance"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "77516727-ce20-4572-a118-1fa6f09a2a32",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA296087",
      "id": "CAR:CA296087",
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-05-15T02:16:52.682Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}