{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://cgerepoapi/evrepo/api/summary/classification/ab08460b-4f62-4a4b-9fd7-5fd8c18a8f4e/doc/sepio/version/1.0.0",
    "assertionMethod": {
      "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1567863456",
      "label": "ClinGen Severe Combined Immunodeficiency Disease  Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RAG2 Version 2.1.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "2.1.0"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0000573",
      "id": "MONDO:0000573",
      "label": "recombinase activating gene 2 deficiency",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA5950586/MONDO:0000573/124/el/0/1681",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA5950586/MONDO:0000573/124/ei/1/1682",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316",
                  "id": "CG-PCER-AGENT:CG_50091_EP170474596929316",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/1/13",
                  "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/CA5950586/MONDO:0000573/124/el/0/1681/1683",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA5950586/MONDO:0000573/124/ci/CA5950586/MONDO:0000573/124.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316",
                          "id": "CG-PCER-AGENT:CG_50091_EP170474596929316",
                          "type": "Agent"
                        },
                        "comments": "The variant is located  in the core domain (amino acids 1-383), which  is defined as a critical functional domain by the ClinGen SCID VCEP (PMID: 26996199); (PM1_Supporting).",
                        "contributionDate": {
                          "date": "2026/1/13",
                          "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": "CA5950586/MONDO:0000573/124/ci/CA5950586/MONDO:0000573/124.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA5950586/MONDO:0000573/124/0/1681/1683",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA5950586/MONDO:0000573/124/1/1682",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA5950586/MONDO:0000573/124/0/1681",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA5950586/MONDO:0000573/124/el/0/1636",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA5950586/MONDO:0000573/124/ei/1/1637",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316",
                  "id": "CG-PCER-AGENT:CG_50091_EP170474596929316",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/1/13",
                  "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/CA5950586/MONDO:0000573/124/el/0/1636/1638",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA5950586/MONDO:0000573/124/ci/CA5950586/MONDO:0000573/124.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316",
                          "id": "CG-PCER-AGENT:CG_50091_EP170474596929316",
                          "type": "Agent"
                        },
                        "comments": "The highest population minor allele frequency in gnomAD v4.1.0 is 0.00002228 (1/44888 alleles) in the East Asian population, which is lower than the ClinGen SCID VCEP threshold  of <0.0000588 and, no  homozygotes have been observed in gnomAD v4.1.0 (PM2_Supporting). ",
                        "contributionDate": {
                          "date": "2026/1/13",
                          "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": "CA5950586/MONDO:0000573/124/ci/CA5950586/MONDO:0000573/124.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA5950586/MONDO:0000573/124/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA5950586/MONDO:0000573/124/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA5950586/MONDO:0000573/124/0/1636",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA5950586/MONDO:0000573/124",
    "metadata": {
      "created": "2026-01-13T16:04:12.847Z",
      "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": "Tue, 13 Jan 2026 16:04:12 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.0.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA26333-7",
      "id": "LN:LA26333-7",
      "label": "Uncertain Significance"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "ab08460b-4f62-4a4b-9fd7-5fd8c18a8f4e",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA5950586",
      "id": "CAR:CA5950586",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000536.4:c.362C>T"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000536.4(RAG2):c.362C>T (p.Thr121Ile)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-22T10:21:32.592Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}