{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://cgerepoapi/evrepo/api/summary/classification/c4b0ae99-0a60-41ae-9906-724b163297e7/doc/sepio/version/1.0.0",
    "assertionMethod": {
      "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1528438490",
      "label": "ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MRAS Version 1.4.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "1.4.0"
    },
    "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/CA2637031/MONDO:0021060/087/el/0/1777",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2637031/MONDO:0021060/087/ei/1/1778",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50021_EP155190663717081",
                  "id": "CG-PCER-AGENT:CG_50021_EP155190663717081",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/3/25",
                  "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/CA2637031/MONDO:0021060/087/el/0/1777/1779",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA2637031/MONDO:0021060/087/ci/CA2637031/MONDO:0021060/087.002",
                    "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 a minor allele frequency of 1.875% (1707/91024) in the South Asian population in gnomAD v4, >0.05%",
                        "contributionDate": {
                          "date": "2025/3/25",
                          "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": "CA2637031/MONDO:0021060/087/ci/CA2637031/MONDO:0021060/087.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA2637031/MONDO:0021060/087/0/1777/1779",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA2637031/MONDO:0021060/087/1/1778",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA2637031/MONDO:0021060/087/0/1777",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA2637031/MONDO:0021060/087",
    "metadata": {
      "created": "2025-04-01T16:26:06.678Z",
      "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": "Tue, 01 Apr 2025 16:26:06 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.0.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA6675-8",
      "id": "LN:LA6675-8",
      "label": "Benign"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "c4b0ae99-0a60-41ae-9906-724b163297e7",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA2637031",
      "id": "CAR:CA2637031",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_001085049.3:c.453G>A"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_001085049.3(MRAS):c.453G>A (p.Pro151=)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-15T17:11:31.736Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}