{
  "data": {
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    "assertionMethod": {
      "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1571601249",
      "label": "ClinGen Severe Combined Immunodeficiency Disease  Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for IL2RG Version 2.1.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "2.1.0"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0010315",
      "id": "MONDO:0010315",
      "label": "T-B+ severe combined immunodeficiency due to gamma chain deficiency",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA260413/MONDO:0010315/129/el/0/1636",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA260413/MONDO:0010315/129/ei/1/1637",
            "contribution": [
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                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316",
                  "id": "CG-PCER-AGENT:CG_50091_EP170474596929316",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/11/21",
                  "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/CA260413/MONDO:0010315/129/el/0/1636/1638",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA260413/MONDO:0010315/129/ci/CA260413/MONDO:0010315/129.002",
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                          "id": "CG-PCER-AGENT:CG_50091_EP170474596929316",
                          "type": "Agent"
                        },
                        "comments": "This variant is absent from gnomAD v4.1.0. (PM2_Supporting)",
                        "contributionDate": {
                          "date": "2025/11/21",
                          "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": "CA260413/MONDO:0010315/129/ci/CA260413/MONDO:0010315/129.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA260413/MONDO:0010315/129/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA260413/MONDO:0010315/129/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA260413/MONDO:0010315/129/0/1636",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA260413/MONDO:0010315/129/el/0/1735",
        "evidenceItem": [
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            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA260413/MONDO:0010315/129/ei/1/1736",
            "contribution": [
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                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316",
                  "id": "CG-PCER-AGENT:CG_50091_EP170474596929316",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/11/21",
                  "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/CA260413/MONDO:0010315/129/el/0/1735/1737",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA260413/MONDO:0010315/129/ci/CA260413/MONDO:0010315/129.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316",
                          "id": "CG-PCER-AGENT:CG_50091_EP170474596929316",
                          "type": "Agent"
                        },
                        "comments": "This variant has been reported in 5 patients in 4 families meeting the PP4 phenotypic criteria (PMIDs 33628209, 8557662, 11129345, 25326637). Excluding the patient used to satisfy the PP4 criteria (PMID 11129345), 3 unrelated patients are counted for PS4. PS4_Strong is met. ",
                        "contributionDate": {
                          "date": "2025/11/21",
                          "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": "CA260413/MONDO:0010315/129/ci/CA260413/MONDO:0010315/129.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA260413/MONDO:0010315/129/0/1735/1737",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA260413/MONDO:0010315/129/1/1736",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA260413/MONDO:0010315/129/0/1735",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA260413/MONDO:0010315/129/el/0/1738",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA260413/MONDO:0010315/129/ei/1/1739",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316",
                  "id": "CG-PCER-AGENT:CG_50091_EP170474596929316",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/11/21",
                  "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/CA260413/MONDO:0010315/129/el/0/1738/1740",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA260413/MONDO:0010315/129/ci/CA260413/MONDO:0010315/129.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316",
                          "id": "CG-PCER-AGENT:CG_50091_EP170474596929316",
                          "type": "Agent"
                        },
                        "comments": "One male patient with this variant presented with SCID within a year of life (0.5pt + 0.5pt) (PMID 11129345). The patient showed a T-B+NK- lymphocyte profile, with T cell 18/mm3 (normal range 1700-3600/mm3); B cell 1120/mm3 (normal range 500-1500/mm3) and NK cell 31/mm3 (normal range 300-700/mm3) (0.5 pt + 1 pt). A flow cytometry assay showed that surface expression of CD132 was absent on patient blood cells (4.5 pts). 7pt in total, PP4_Strong is met.",
                        "contributionDate": {
                          "date": "2025/11/21",
                          "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": "CA260413/MONDO:0010315/129/ci/CA260413/MONDO:0010315/129.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA260413/MONDO:0010315/129/0/1738/1740",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA260413/MONDO:0010315/129/1/1739",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA260413/MONDO:0010315/129/0/1738",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA260413/MONDO:0010315/129",
    "metadata": {
      "created": "2025-11-21T16:14:42.700Z",
      "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": "Fri, 21 Nov 2025 16:14:42 -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": "55f9c9b6-4dae-488e-85e3-100295ce694f",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA260413",
      "id": "CAR:CA260413",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000206.3:c.455T>C"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000206.3(IL2RG):c.455T>C (p.Val152Ala)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-06-21T04:13:04.018Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}