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                ],
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                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA10385879/MONDO:0010703/156/1/1646",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA10385879/MONDO:0010703/156/0/1645",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10385879/MONDO:0010703/156/el/0/1777",
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            "contribution": [
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                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/5/30",
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                },
                "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/CA10385879/MONDO:0010703/156/el/0/1777/1779",
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                          "type": "Agent"
                        },
                        "comments": "The highest population minor allele frequency in gnomAD v4.1.0 is 0.0001094 (5/45704 alleles) in the Admixed American population and there are 21 hemizygotes in total. ",
                        "contributionDate": {
                          "date": "2026/5/30",
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                        },
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                          "@id": "https://obofoundry.org/sepio/0000156",
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                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA10385879/MONDO:0010703/156/ci/CA10385879/MONDO:0010703/156.002",
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                  }
                ],
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                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA10385879/MONDO:0010703/156/1/1778",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
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          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA10385879/MONDO:0010703/156/0/1777",
        "type": "EvidenceLine"
      },
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        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10385879/MONDO:0010703/156/el/0/1828",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10385879/MONDO:0010703/156/ei/1/1829",
            "contribution": [
              {
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                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50100_EP177998198620257",
                  "id": "CG-PCER-AGENT:CG_50100_EP177998198620257",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/5/30",
                  "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"
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            ],
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                          "id": "CG-PCER-AGENT:CG_50100_EP177998198620257",
                          "type": "Agent"
                        },
                        "comments": "PMID: 37146589: variant shown to result in 71.5% (hypomorphic range) of wild-type growth in yeast assay",
                        "contributionDate": {
                          "date": "2026/5/30",
                          "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"
                      }
                    ],
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                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA10385879/MONDO:0010703/156/0/1828/1830",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA10385879/MONDO:0010703/156/1/1829",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA10385879/MONDO:0010703/156/0/1828",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA10385879/MONDO:0010703/156",
    "metadata": {
      "created": "2026-05-30T01:09:52.275Z",
      "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": "Sat, 30 May 2026 01:09:52 -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": "153ca2bf-d5f1-4655-af30-15dffe98098a",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA10385879",
      "id": "CAR:CA10385879",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000531.6:c.498G>T"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000531.6(OTC):c.498G>T (p.Leu166Phe)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-15T06:50:48.144Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}