{
  "data": [
    {
      "@context": "https://erepo.genome.network/evrepo/api/context",
      "@id": "https://cgerepoapi/evrepo/api/summary/classification/a8067cbf-1dd7-4aab-bdb7-dfb3edfdaedf/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/CA180895/MONDO:0021060/004/el/0/1777",
          "evidenceItem": [
            {
              "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA180895/MONDO:0021060/004/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": "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/CA180895/MONDO:0021060/004/el/0/1777/1779",
                  "evidenceItem": [
                    {
                      "@id": "CG-PCER:curatorInference/CA180895/MONDO:0021060/004/ci/CA180895/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 filtering allele frequency of the c.1162C>T (p.Arg388Trp) variant in the MAP2K2 gene is 0.125% for ETHNICITY chromosomes by the Exome Aggregation Consortium (25/2788 with 95% CI), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert panel for autosomal dominant RASopathy variants (BA1).",
                          "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": "CA180895/MONDO:0021060/004/ci/CA180895/MONDO:0021060/004.002",
                      "type": "InfFromBkgrndSciKnow"
                    }
                  ],
                  "id": "CG-PCER-VARINT:CA180895/MONDO:0021060/004/0/1777/1779",
                  "type": "EvidenceLine"
                }
              ],
              "id": "CG-PCER-VARINT:CA180895/MONDO:0021060/004/1/1778",
              "statementOutcome": {
                "@id": "SEPIO:0000224",
                "label": "Met"
              },
              "type": "CriterionAssessment"
            }
          ],
          "evidenceStrength": {
            "@id": "https://obofoundry.org/sepio"
          },
          "id": "CG-PCER-VARINT:CA180895/MONDO:0021060/004/0/1777",
          "type": "EvidenceLine"
        }
      ],
      "id": "CG-PCER-VARINT:CA180895/MONDO:0021060/004",
      "metadata": {
        "created": "2024-09-27T19:45:31.756Z",
        "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 19:45:31 -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": "a8067cbf-1dd7-4aab-bdb7-dfb3edfdaedf",
      "variant": {
        "@id": "https://reg.genome.network/allele/CA180895",
        "id": "CAR:CA180895",
        "relatedContextualAllele": [
          {
            "alleleName": [
              {
                "name": "NM_030662.3:c.1162C>T"
              }
            ],
            "preferred": true
          }
        ],
        "relatedIdentifier": [
          {
            "label": "NM_030662.3(MAP2K2):c.1162C>T (p.Arg388Trp)"
          }
        ],
        "type": "CAR"
      }
    }
  ],
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-15T08:53:05.587Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}