{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://cgerepoapi/evrepo/api/summary/classification/288af6b0-dcff-492f-8fcb-9b924005ad8a/doc/sepio/version/1.1.0",
    "assertionMethod": {
      "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1567643911",
      "label": "ClinGen Severe Combined Immunodeficiency Disease  Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RAG1 Version 2.1.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "2.1.0"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0000572",
      "id": "MONDO:0000572",
      "label": "recombinase activating gene 1 deficiency",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA219824/MONDO:0000572/123/el/0/1717",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA219824/MONDO:0000572/123/ei/1/1718",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316",
                  "id": "CG-PCER-AGENT:CG_50091_EP170474596929316",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/5/21",
                  "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/CA219824/MONDO:0000572/123/el/0/1717/1719",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA219824/MONDO:0000572/123/ci/CA219824/MONDO:0000572/123.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316",
                          "id": "CG-PCER-AGENT:CG_50091_EP170474596929316",
                          "type": "Agent"
                        },
                        "comments": "The patient (PMID: 21771083) was found heterozygous for R699W & Y1001X (not yet curated by SCID VCEP); p.R699W & p.393fsX402 (not yet curated by SCID VCEP)(PMID: 21184155); homozygous in 3 individuals (PMIDs: 24122031,31503426,32447396) (Pt.:1) (PM3).",
                        "contributionDate": {
                          "date": "2026/5/21",
                          "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": "CA219824/MONDO:0000572/123/ci/CA219824/MONDO:0000572/123.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA219824/MONDO:0000572/123/0/1717/1719",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA219824/MONDO:0000572/123/1/1718",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA219824/MONDO:0000572/123/0/1717",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA219824/MONDO:0000572/123/el/0/1633",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA219824/MONDO:0000572/123/ei/1/1634",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316",
                  "id": "CG-PCER-AGENT:CG_50091_EP170474596929316",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/5/21",
                  "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/CA219824/MONDO:0000572/123/el/0/1633/1635",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA219824/MONDO:0000572/123/ci/CA219824/MONDO:0000572/123.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316",
                          "id": "CG-PCER-AGENT:CG_50091_EP170474596929316",
                          "type": "Agent"
                        },
                        "comments": "Patient with SCID (0.5 pt.), genome sequencing conducted  (0.5 pt.),T-B-NK+ lymphocyte subset profile (0.5 pt.) Total :1.5 pts. (PMID: 29107076) (PP4).",
                        "contributionDate": {
                          "date": "2026/5/21",
                          "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": "CA219824/MONDO:0000572/123/ci/CA219824/MONDO:0000572/123.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA219824/MONDO:0000572/123/0/1633/1635",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA219824/MONDO:0000572/123/1/1634",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA219824/MONDO:0000572/123/0/1633",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA219824/MONDO:0000572/123/el/0/1636",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA219824/MONDO:0000572/123/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": "2026/5/21",
                  "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/CA219824/MONDO:0000572/123/el/0/1636/1638",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA219824/MONDO:0000572/123/ci/CA219824/MONDO:0000572/123.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316",
                          "id": "CG-PCER-AGENT:CG_50091_EP170474596929316",
                          "type": "Agent"
                        },
                        "comments": "The filtering allele frequency (the upper threshold of the 95% CI of 5/1179830) of the c.2095C>T variant in RAG1 is 0.000001320 for European Non-Finnish chromosomes by gnomAD v4, which is lower than the ClinGen SCID VCEP threshold (<0.000102) for PM2_Supporting, and therefore meets this criterion (PM2_Supporting).",
                        "contributionDate": {
                          "date": "2026/5/21",
                          "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": "CA219824/MONDO:0000572/123/ci/CA219824/MONDO:0000572/123.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA219824/MONDO:0000572/123/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA219824/MONDO:0000572/123/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA219824/MONDO:0000572/123/0/1636",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA219824/MONDO:0000572/123/el/0/1825",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA219824/MONDO:0000572/123/ei/1/1826",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316",
                  "id": "CG-PCER-AGENT:CG_50091_EP170474596929316",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/5/21",
                  "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/CA219824/MONDO:0000572/123/el/0/1825/1827",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA219824/MONDO:0000572/123/ci/CA219824/MONDO:0000572/123.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316",
                          "id": "CG-PCER-AGENT:CG_50091_EP170474596929316",
                          "type": "Agent"
                        },
                        "comments": "The VDJ recombination activity was found to be  19.3  +/- 1.8 % of WT (mean +/- SE) in a flow cytometry based assay. PMID :  24290284 (PS3_Moderate)",
                        "contributionDate": {
                          "date": "2026/5/21",
                          "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": "CA219824/MONDO:0000572/123/ci/CA219824/MONDO:0000572/123.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA219824/MONDO:0000572/123/0/1825/1827",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA219824/MONDO:0000572/123/1/1826",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA219824/MONDO:0000572/123/0/1825",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA219824/MONDO:0000572/123/el/0/1681",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA219824/MONDO:0000572/123/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": "2026/5/21",
                  "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/CA219824/MONDO:0000572/123/el/0/1681/1683",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA219824/MONDO:0000572/123/ci/CA219824/MONDO:0000572/123.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316",
                          "id": "CG-PCER-AGENT:CG_50091_EP170474596929316",
                          "type": "Agent"
                        },
                        "comments": "This missense variant is located in the core domain (amino acids 387-1011) (PM1_supporting).",
                        "contributionDate": {
                          "date": "2026/5/21",
                          "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": "CA219824/MONDO:0000572/123/ci/CA219824/MONDO:0000572/123.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA219824/MONDO:0000572/123/0/1681/1683",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA219824/MONDO:0000572/123/1/1682",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA219824/MONDO:0000572/123/0/1681",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA219824/MONDO:0000572/123",
    "metadata": {
      "created": "2026-05-21T18:08:14.284Z",
      "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, 21 May 2026 18:08:14 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.1.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA26332-9",
      "id": "LN:LA26332-9",
      "label": "Likely Pathogenic"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "288af6b0-dcff-492f-8fcb-9b924005ad8a",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA219824",
      "id": "CAR:CA219824",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000448.3:c.2095C>T"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000448.3(RAG1):c.2095C>T (p.Arg699Trp)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-14T09:44:11.990Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}