{
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      "label": "ClinGen Brain Malformations Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1.1.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "1.1.0"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0100283",
      "id": "MONDO:0100283",
      "label": "overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA590769/MONDO:0100283/018/el/0/1837",
        "evidenceItem": [
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                },
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                "contributionRole": {
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                  "id": "SEPIO:0000516",
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                },
                "type": "Contribution"
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            ],
            "evidenceLine": [
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                          "type": "Agent"
                        },
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                        "contributionDate": {
                          "date": "2025/6/30",
                          "description": "Date on which this evidence was provided"
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                        },
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                      }
                    ],
                    "id": "CA590769/MONDO:0100283/018/ci/CA590769/MONDO:0100283/018.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA590769/MONDO:0100283/018/0/1837/1839",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA590769/MONDO:0100283/018/1/1838",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA590769/MONDO:0100283/018/0/1837",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA590769/MONDO:0100283/018/el/0/1798",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA590769/MONDO:0100283/018/ei/1/1799",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50020_EP16342163677673",
                  "id": "CG-PCER-AGENT:CG_50020_EP16342163677673",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/6/30",
                  "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/CA590769/MONDO:0100283/018/el/0/1798/1800",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA590769/MONDO:0100283/018/ci/CA590769/MONDO:0100283/018.002",
                    "contribution": [
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                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50020_EP16342163677673",
                          "id": "CG-PCER-AGENT:CG_50020_EP16342163677673",
                          "type": "Agent"
                        },
                        "comments": " In gnomAD v4.1.0, this variant has a filtering allele frequency of 0.001567% and a minor allele frequency of 0.002288% (27/1180014) n the European (non-Finnish) population.",
                        "contributionDate": {
                          "date": "2025/6/30",
                          "description": "Date on which this evidence was provided"
                        },
                        "contributionRole": {
                          "@id": "https://obofoundry.org/sepio/0000156",
                          "id": "SEPIO:0000516",
                          "label": "curator role",
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                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA590769/MONDO:0100283/018/ci/CA590769/MONDO:0100283/018.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA590769/MONDO:0100283/018/0/1798/1800",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA590769/MONDO:0100283/018/1/1799",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA590769/MONDO:0100283/018/0/1798",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA590769/MONDO:0100283/018/el/0/1804",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA590769/MONDO:0100283/018/ei/1/1805",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50020_EP16342163677673",
                  "id": "CG-PCER-AGENT:CG_50020_EP16342163677673",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/6/30",
                  "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/CA590769/MONDO:0100283/018/el/0/1804/1806",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA590769/MONDO:0100283/018/ci/CA590769/MONDO:0100283/018.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50020_EP16342163677673",
                          "id": "CG-PCER-AGENT:CG_50020_EP16342163677673",
                          "type": "Agent"
                        },
                        "comments": " In gnomAD v4.1.0, this variant has a filtering allele frequency of 0.001567% and a minor allele frequency of 0.002288% (27/1180014) n the European (non-Finnish) population.",
                        "contributionDate": {
                          "date": "2025/6/30",
                          "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": "CA590769/MONDO:0100283/018/ci/CA590769/MONDO:0100283/018.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA590769/MONDO:0100283/018/0/1804/1806",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA590769/MONDO:0100283/018/1/1805",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA590769/MONDO:0100283/018/0/1804",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA590769/MONDO:0100283/018",
    "metadata": {
      "created": "2025-06-30T18:40:20.419Z",
      "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": "Mon, 30 Jun 2025 18:40:20 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "2.1.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA26333-7",
      "id": "LN:LA26333-7",
      "label": "Uncertain Significance"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "d905c8f8-e589-45f8-bf70-1f3919e30c53",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA590769",
      "id": "CAR:CA590769",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_004958.4:c.1249A>G"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_004958.4(MTOR):c.1249A>G (p.Met417Val)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-11-03T21:13:11.327Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}