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        "created": "2025-04-01T16:38:56.727Z",
        "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 16:38:56 -0000",
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                }
              ],
              "id": "CG-PCER-VARINT:CA137972/MONDO:0021060/004/1/1778",
              "statementOutcome": {
                "@id": "SEPIO:0000224",
                "label": "Met"
              },
              "type": "CriterionAssessment"
            }
          ],
          "evidenceStrength": {
            "@id": "https://obofoundry.org/sepio"
          },
          "id": "CG-PCER-VARINT:CA137972/MONDO:0021060/004/0/1777",
          "type": "EvidenceLine"
        },
        {
          "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA137972/MONDO:0021060/004/el/0/1579",
          "evidenceItem": [
            {
              "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA137972/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/CA137972/MONDO:0021060/004/el/0/1579/1581",
                  "evidenceItem": [
                    {
                      "@id": "CG-PCER:curatorInference/CA137972/MONDO:0021060/004/ci/CA137972/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; GeneDx internal data; GTR ID's 26957; SCV000207963.8).",
                          "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": "CA137972/MONDO:0021060/004/ci/CA137972/MONDO:0021060/004.002",
                      "type": "InfFromBkgrndSciKnow"
                    }
                  ],
                  "id": "CG-PCER-VARINT:CA137972/MONDO:0021060/004/0/1579/1581",
                  "type": "EvidenceLine"
                }
              ],
              "id": "CG-PCER-VARINT:CA137972/MONDO:0021060/004/1/1580",
              "statementOutcome": {
                "@id": "SEPIO:0000224",
                "label": "Met"
              },
              "type": "CriterionAssessment"
            }
          ],
          "evidenceStrength": {
            "@id": "https://obofoundry.org/sepio"
          },
          "id": "CG-PCER-VARINT:CA137972/MONDO:0021060/004/0/1579",
          "type": "EvidenceLine"
        }
      ],
      "id": "CG-PCER-VARINT:CA137972/MONDO:0021060/004",
      "metadata": {
        "created": "2024-09-27T19:45:34.156Z",
        "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 19:45:34 -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": "413325d3-6867-4b66-a6a6-655f337675bc",
      "variant": {
        "@id": "https://reg.genome.network/allele/CA137972",
        "id": "CAR:CA137972",
        "relatedContextualAllele": [
          {
            "alleleName": [
              {
                "name": "NM_030662.3:c.844C>T"
              }
            ],
            "preferred": true
          }
        ],
        "relatedIdentifier": [
          {
            "label": "NM_030662.3(MAP2K2):c.844C>T (p.Pro282Ser)"
          }
        ],
        "type": "CAR"
      }
    }
  ],
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-15T09:17:34.575Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}