{
  "data": [
    {
      "@context": "https://erepo.genome.network/evrepo/api/context",
      "@id": "https://cgerepoapi/evrepo/api/summary/classification/7e872ce6-f7c9-4c3d-a39e-8a174058fd77/doc/sepio/version/1.0.0",
      "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/CA175346/MONDO:0021060/004/el/0/1579",
          "evidenceItem": [
            {
              "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA175346/MONDO:0021060/004/ei/1/1580",
              "contribution": [
                {
                  "agent": {
                    "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50021_EP155190663717081",
                    "id": "CG-PCER-AGENT:CG_50021_EP155190663717081",
                    "type": "Agent"
                  },
                  "contributionDate": {
                    "date": "2018/12/10",
                    "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/CA175346/MONDO:0021060/004/el/0/1579/1581",
                  "evidenceItem": [
                    {
                      "@id": "CG-PCER:curatorInference/CA175346/MONDO:0021060/004/ci/CA175346/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": "This variant has been identified in a patient with an alternate molecular basis for disease (BP5; Partners LMM, GeneDx internal data, GTR ID's: SCV000197179.4, SCV000512270.5).",
                          "contributionDate": {
                            "date": "2018/12/10",
                            "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": "CA175346/MONDO:0021060/004/ci/CA175346/MONDO:0021060/004.002",
                      "type": "InfFromBkgrndSciKnow"
                    }
                  ],
                  "id": "CG-PCER-VARINT:CA175346/MONDO:0021060/004/0/1579/1581",
                  "type": "EvidenceLine"
                }
              ],
              "id": "CG-PCER-VARINT:CA175346/MONDO:0021060/004/1/1580",
              "statementOutcome": {
                "@id": "SEPIO:0000224",
                "label": "Met"
              },
              "type": "CriterionAssessment"
            }
          ],
          "evidenceStrength": {
            "@id": "https://obofoundry.org/sepio"
          },
          "id": "CG-PCER-VARINT:CA175346/MONDO:0021060/004/0/1579",
          "type": "EvidenceLine"
        },
        {
          "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA175346/MONDO:0021060/004/el/0/1654",
          "evidenceItem": [
            {
              "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA175346/MONDO:0021060/004/ei/1/1655",
              "contribution": [
                {
                  "agent": {
                    "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50021_EP155190663717081",
                    "id": "CG-PCER-AGENT:CG_50021_EP155190663717081",
                    "type": "Agent"
                  },
                  "contributionDate": {
                    "date": "2018/12/10",
                    "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/CA175346/MONDO:0021060/004/el/0/1654/1656",
                  "evidenceItem": [
                    {
                      "@id": "CG-PCER:curatorInference/CA175346/MONDO:0021060/004/ci/CA175346/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": "The c.111G>A (p.Ser37=)  variant is a synonymous (silent) variant at a nucleotide that is not highly conserved and is not predicted to impact splicing (BP7).",
                          "contributionDate": {
                            "date": "2018/12/10",
                            "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": "CA175346/MONDO:0021060/004/ci/CA175346/MONDO:0021060/004.002",
                      "type": "InfFromBkgrndSciKnow"
                    }
                  ],
                  "id": "CG-PCER-VARINT:CA175346/MONDO:0021060/004/0/1654/1656",
                  "type": "EvidenceLine"
                }
              ],
              "id": "CG-PCER-VARINT:CA175346/MONDO:0021060/004/1/1655",
              "statementOutcome": {
                "@id": "SEPIO:0000224",
                "label": "Met"
              },
              "type": "CriterionAssessment"
            }
          ],
          "evidenceStrength": {
            "@id": "https://obofoundry.org/sepio"
          },
          "id": "CG-PCER-VARINT:CA175346/MONDO:0021060/004/0/1654",
          "type": "EvidenceLine"
        }
      ],
      "id": "CG-PCER-VARINT:CA175346/MONDO:0021060/004",
      "metadata": {
        "created": "2024-09-27T19:45:48.021Z",
        "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, 27 Sep 2024 19:45:47 -0000",
        "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
        "version": "1.0.0"
      },
      "statementOutcome": {
        "@id": "https://loinc.org/LA26334-5",
        "id": "LN:LA26334-5",
        "label": "Likely Benign"
      },
      "type": "VariantPathogenicityInterpretation",
      "uuid": "7e872ce6-f7c9-4c3d-a39e-8a174058fd77",
      "variant": {
        "@id": "https://reg.genome.network/allele/CA175346",
        "id": "CAR:CA175346",
        "relatedContextualAllele": [
          {
            "alleleName": [
              {
                "name": "NM_004333.4:c.111G>A"
              }
            ],
            "preferred": true
          }
        ],
        "relatedIdentifier": [
          {
            "label": "NM_004333.4(BRAF):c.111G>A (p.Ser37=)"
          }
        ],
        "type": "CAR"
      }
    }
  ],
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-14T09:00:31.751Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}