{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://erepo.genome.network/evrepo/api/summary/classification/e1a7f305-d1e3-4e8b-9d38-0645f61fc98e/doc/sepio/version/1.1.1",
    "assertionMethod": {
      "type": "VariantPathogenicityInterpretationGuideline"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0008723",
      "id": "MONDO:0008723",
      "label": "very long chain acyl-CoA dehydrogenase deficiency",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA220206/MONDO:0008723/021/el/0/1633",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA220206/MONDO:0008723/021/ei/1/1634",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50048_EP16455509033668",
                  "id": "CG-PCER-AGENT:CG_50048_EP16455509033668",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2022/4/6",
                  "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/CA220206/MONDO:0008723/021/el/0/1633/1635",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA220206/MONDO:0008723/021/ci/CA220206/MONDO:0008723/021.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50048_EP16455509033668",
                          "id": "CG-PCER-AGENT:CG_50048_EP16455509033668",
                          "type": "Agent"
                        },
                        "comments": "Assertion of VLCAD deficiency (PMID: 31031081 & 7479827)",
                        "contributionDate": {
                          "date": "2022/4/6",
                          "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": "CA220206/MONDO:0008723/021/ci/CA220206/MONDO:0008723/021.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA220206/MONDO:0008723/021/0/1633/1635",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA220206/MONDO:0008723/021/1/1634",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA220206/MONDO:0008723/021/0/1633",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA220206/MONDO:0008723/021/el/0/1717",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA220206/MONDO:0008723/021/ei/1/1718",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50048_EP16455509033668",
                  "id": "CG-PCER-AGENT:CG_50048_EP16455509033668",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2022/4/6",
                  "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/CA220206/MONDO:0008723/021/el/0/1717/1719",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA220206/MONDO:0008723/021/ci/CA220206/MONDO:0008723/021.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50048_EP16455509033668",
                          "id": "CG-PCER-AGENT:CG_50048_EP16455509033668",
                          "type": "Agent"
                        },
                        "comments": "One copy (p.R613W) confirmed inherited from the mother. Deletion not confirmed from father. PM3_supporting NOT applied, because (p.R613W) variant is not curated by VCEP yet.  ",
                        "contributionDate": {
                          "date": "2022/4/6",
                          "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": "CA220206/MONDO:0008723/021/ci/CA220206/MONDO:0008723/021.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA220206/MONDO:0008723/021/0/1717/1719",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA220206/MONDO:0008723/021/1/1718",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA220206/MONDO:0008723/021/0/1717",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA220206/MONDO:0008723/021/el/0/1636",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA220206/MONDO:0008723/021/ei/1/1637",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50048_EP16455509033668",
                  "id": "CG-PCER-AGENT:CG_50048_EP16455509033668",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2022/4/6",
                  "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/CA220206/MONDO:0008723/021/el/0/1636/1638",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA220206/MONDO:0008723/021/ci/CA220206/MONDO:0008723/021.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50048_EP16455509033668",
                          "id": "CG-PCER-AGENT:CG_50048_EP16455509033668",
                          "type": "Agent"
                        },
                        "comments": "gnomAD frequency 0.001414%",
                        "contributionDate": {
                          "date": "2022/4/6",
                          "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": "CA220206/MONDO:0008723/021/ci/CA220206/MONDO:0008723/021.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA220206/MONDO:0008723/021/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA220206/MONDO:0008723/021/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA220206/MONDO:0008723/021/0/1636",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA220206/MONDO:0008723/021/el/0/1594",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA220206/MONDO:0008723/021/ei/1/1595",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50048_EP16455509033668",
                  "id": "CG-PCER-AGENT:CG_50048_EP16455509033668",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2022/4/6",
                  "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/CA220206/MONDO:0008723/021/el/0/1594/1596",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA220206/MONDO:0008723/021/ci/CA220206/MONDO:0008723/021.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50048_EP16455509033668",
                          "id": "CG-PCER-AGENT:CG_50048_EP16455509033668",
                          "type": "Agent"
                        },
                        "comments": "Frameshift exon 6/20",
                        "contributionDate": {
                          "date": "2022/4/6",
                          "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": "CA220206/MONDO:0008723/021/ci/CA220206/MONDO:0008723/021.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA220206/MONDO:0008723/021/0/1594/1596",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA220206/MONDO:0008723/021/1/1595",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA220206/MONDO:0008723/021/0/1594",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA220206/MONDO:0008723/021",
    "metadata": {
      "created": "2025-10-23T17:39:38.532Z",
      "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": "Thu, 23 Oct 2025 17:39:38 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.1.1"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA6668-3",
      "id": "LN:LA6668-3",
      "label": "Pathogenic"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "e1a7f305-d1e3-4e8b-9d38-0645f61fc98e",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA220206",
      "id": "CAR:CA220206",
      "relatedIdentifier": [
        {
          "label": "NM_000018.2(ACADVL):c.343delG (p.Glu115Lysfs)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-06-12T02:32:37.792Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}