{
  "data": [
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      "assertionMethod": {
        "type": "VariantPathogenicityInterpretationGuideline"
      },
      "condition": {
        "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0009861",
        "id": "MONDO:0009861",
        "label": "phenylketonuria",
        "type": "GeneticCondition"
      },
      "evidenceLine": [
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          "evidenceItem": [
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              "@id": "https://erepo.test.genome.network/evrepo/api/interpretation/CA229588/MONDO:0009861/006/ei/1/1799",
              "contribution": [
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                  },
                  "contributionDate": {
                    "date": "2019/8/17",
                    "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"
                }
              ],
              "criterion": {
                "@id": "https://obofoundry.org/sepio/clingen/0011",
                "defaultStrength": {
                  "@id": "https://obofoundry.org/sepio/SEPIO:0000216",
                  "id": "SEPIO:0000216",
                  "label": "Pathogenic Moderate"
                },
                "id": "0011",
                "label": "PM2",
                "type": "Criterion"
              },
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                  "@id": "https://erepo.test.genome.network/evrepo/api/interpretation/CA229588/MONDO:0009861/006/el/0/1798/1800",
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                            "type": "Agent"
                          },
                          "comments": "Extremely low frequency. ExAC MAF: 0.00001.",
                          "contributionDate": {
                            "date": "2019/8/17",
                            "description": "Date on which this evidence was provided"
                          },
                          "contributionRole": {
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                          },
                          "type": "Contribution"
                        }
                      ],
                      "id": "CA229588/MONDO:0009861/006/ci/CA229588/MONDO:0009861/006.002",
                      "type": "InfFromBkgrndSciKnow"
                    }
                  ],
                  "id": "CG-PCER-VARINT:CA229588/MONDO:0009861/006/0/1798/1800",
                  "type": "EvidenceLine"
                }
              ],
              "id": "CG-PCER-VARINT:CA229588/MONDO:0009861/006/1/1799",
              "statementOutcome": {
                "@id": "SEPIO:0000224",
                "label": "Met"
              },
              "type": "CriterionAssessment"
            }
          ],
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            "@id": "https://obofoundry.org/sepio"
          },
          "id": "CG-PCER-VARINT:CA229588/MONDO:0009861/006/0/1798",
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        },
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          "evidenceItem": [
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                  },
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                    "date": "2019/8/17",
                    "description": "Date on which this evidence was provided"
                  },
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                    "@id": "https://obofoundry.org/sepio/0000156",
                    "id": "SEPIO:0000516",
                    "label": "curator role",
                    "type": "ContributoryRole"
                  },
                  "type": "Contribution"
                }
              ],
              "criterion": {
                "@id": "https://obofoundry.org/sepio/clingen/0017",
                "defaultStrength": {
                  "@id": "https://obofoundry.org/sepio/SEPIO:0000220",
                  "id": "SEPIO:0000220",
                  "label": "Pathogenic Very Strong"
                },
                "id": "0017",
                "label": "PVS1",
                "type": "Criterion"
              },
              "evidenceLine": [
                {
                  "@id": "https://erepo.test.genome.network/evrepo/api/interpretation/CA229588/MONDO:0009861/006/el/0/1594/1596",
                  "evidenceItem": [
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                      "@id": "CG-PCER:curatorInference/CA229588/MONDO:0009861/006/ci/CA229588/MONDO:0009861/006.002",
                      "contribution": [
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                            "id": "CG-PCER-AGENT:CG_50015_EP155189476927837",
                            "type": "Agent"
                          },
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                          "contributionDate": {
                            "date": "2019/8/17",
                            "description": "Date on which this evidence was provided"
                          },
                          "contributionRole": {
                            "@id": "https://obofoundry.org/sepio/0000156",
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                          },
                          "type": "Contribution"
                        }
                      ],
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                      "type": "InfFromBkgrndSciKnow"
                    }
                  ],
                  "id": "CG-PCER-VARINT:CA229588/MONDO:0009861/006/0/1594/1596",
                  "type": "EvidenceLine"
                }
              ],
              "id": "CG-PCER-VARINT:CA229588/MONDO:0009861/006/1/1595",
              "statementOutcome": {
                "@id": "SEPIO:0000224",
                "label": "Met"
              },
              "type": "CriterionAssessment"
            }
          ],
          "evidenceStrength": {
            "@id": "https://obofoundry.org/sepio"
          },
          "id": "CG-PCER-VARINT:CA229588/MONDO:0009861/006/0/1594",
          "type": "EvidenceLine"
        },
        {
          "@id": "https://erepo.test.genome.network/evrepo/api/interpretation/CA229588/MONDO:0009861/006/el/0/1633",
          "evidenceItem": [
            {
              "@id": "https://erepo.test.genome.network/evrepo/api/interpretation/CA229588/MONDO:0009861/006/ei/1/1634",
              "contribution": [
                {
                  "agent": {
                    "@id": "https://erepo.test.genome.network/evrepo/api//agent/CG_50015_EP155189476927837",
                    "id": "CG-PCER-AGENT:CG_50015_EP155189476927837",
                    "type": "Agent"
                  },
                  "contributionDate": {
                    "date": "2019/8/17",
                    "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"
                }
              ],
              "criterion": {
                "@id": "https://obofoundry.org/sepio/clingen/0063",
                "defaultStrength": {
                  "@id": "https://obofoundry.org/sepio/SEPIO:0000329",
                  "id": "SEPIO:0000329",
                  "label": "Pathogenic Supporting"
                },
                "id": "0063",
                "label": "PP4",
                "type": "Criterion"
              },
              "evidenceLine": [
                {
                  "@id": "https://erepo.test.genome.network/evrepo/api/interpretation/CA229588/MONDO:0009861/006/el/0/1633/1635",
                  "evidenceItem": [
                    {
                      "@id": "CG-PCER:curatorInference/CA229588/MONDO:0009861/006/ci/EV000000005",
                      "contribution": [
                        {
                          "agent": {
                            "@id": "https://erepo.test.genome.network/evrepo/api//agent/CG_50015_EP155189476927837",
                            "id": "CG-PCER-AGENT:CG_50015_EP155189476927837",
                            "type": "Agent"
                          },
                          "comments": "c.503delA (p.Y168>Sfs) detected in study.",
                          "contributionDate": {
                            "date": "2019/8/17",
                            "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": "CA229588/MONDO:0009861/006/ci/EV000000005",
                      "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/23430918",
                      "type": "CuratorInference"
                    }
                  ],
                  "id": "CG-PCER-VARINT:CA229588/MONDO:0009861/006/0/1633/1635",
                  "type": "EvidenceLine"
                }
              ],
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              "statementOutcome": {
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                "label": "Met"
              },
              "type": "CriterionAssessment"
            }
          ],
          "evidenceStrength": {
            "@id": "https://obofoundry.org/sepio"
          },
          "id": "CG-PCER-VARINT:CA229588/MONDO:0009861/006/0/1633",
          "type": "EvidenceLine"
        }
      ],
      "id": "CG-PCER-VARINT:CA229588/MONDO:0009861/006",
      "metadata": {
        "created": "2024-09-26T21:30:49.805Z",
        "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, 26 Sep 2024 21:30:49 -0000",
        "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
        "version": "1.0.0"
      },
      "statementOutcome": {
        "@id": "https://loinc.org/LA6668-3",
        "id": "LN:LA6668-3",
        "label": "Pathogenic"
      },
      "type": "VariantPathogenicityInterpretation",
      "uuid": "7a494430-377e-4473-a5f7-e0698ec51cab",
      "variant": {
        "@id": "https://reg.test.genome.network/allele/CA229588",
        "id": "CAR:CA229588",
        "relatedContextualAllele": [
          {
            "alleleName": [
              {
                "name": "NM_000277.2:c.503delA"
              }
            ],
            "preferred": true
          }
        ],
        "relatedIdentifier": [
          {
            "label": "NM_000277.2(PAH):c.503delA (p.Tyr168Serfs)"
          }
        ],
        "type": "CAR"
      }
    }
  ],
  "metadata": {
    "rendered": {
      "by": "https://erepo.test.genome.network/evrepo/api/summary/srvc",
      "when": "2026-09-17T12:24:07.292Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}