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      "type": "VariantPathogenicityInterpretationGuideline",
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    },
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      "id": "MONDO:0700270",
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      "type": "GeneticCondition"
    },
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                          "type": "Agent"
                        },
                        "comments": "The highest population minor allele frequency in gnomAD v2.1.1 is 0.001% in European (non-Finnish) population, which is lower than the ClinGen HBOP threshold\n(</=0.001%) for PM2_Supporting, meeting this criterion.",
                        "contributionDate": {
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                      }
                    ],
                    "id": "CA298357/MONDO:0700270/020/ci/CA298357/MONDO:0700270/020.002",
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                  }
                ],
                "id": "CG-PCER-VARINT:CA298357/MONDO:0700270/020/0/1636/1638",
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            ],
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            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA298357/MONDO:0700270/020/0/1636",
        "type": "EvidenceLine"
      },
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                  "type": "Agent"
                },
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                  "description": "Date on which this evidence was provided"
                },
                "contributionRole": {
                  "@id": "https://obofoundry.org/sepio/0000156",
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                  "label": "curator role",
                  "type": "ContributoryRole"
                },
                "type": "Contribution"
              }
            ],
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA298357/MONDO:0700270/020/el/0/1828/1830",
                "evidenceItem": [
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                          "date": "2025/9/15",
                          "description": "Date on which this evidence was provided"
                        },
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                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA298357/MONDO:0700270/020/ci/CA298357/MONDO:0700270/020.002",
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                  }
                ],
                "id": "CG-PCER-VARINT:CA298357/MONDO:0700270/020/0/1828/1830",
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            ],
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              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
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          }
        ],
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          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA298357/MONDO:0700270/020/0/1828",
        "type": "EvidenceLine"
      },
      {
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        "evidenceItem": [
          {
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            "contribution": [
              {
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                  "type": "Agent"
                },
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                },
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                "type": "Contribution"
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            ],
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                          "type": "Agent"
                        },
                        "comments": "This variant has been detected in an individual with Ataxia-Telangiectasia in the compound heterozygous state with a pathogenic variant (c.1355del) confirmed in trans by parental testing (4 points: PMID 9463314, 10234507, 26896183). ",
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                        },
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                      }
                    ],
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                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA298357/MONDO:0700270/020/0/1651/1653",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA298357/MONDO:0700270/020/1/1652",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA298357/MONDO:0700270/020/0/1651",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA298357/MONDO:0700270/020",
    "metadata": {
      "created": "2025-09-15T21:18:14.449Z",
      "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, 15 Sep 2025 21:18:14 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "2.0.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA26332-9",
      "id": "LN:LA26332-9",
      "label": "Likely Pathogenic"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "afccc577-2d42-4940-8bb7-bbf0b5ea06e3",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA298357",
      "id": "CAR:CA298357",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000051.4:c.4394T>C"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000051.4(ATM):c.4394T>C (p.Leu1465Pro)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-11-05T05:01:53.101Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}