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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000448.3(RAG1):c.256_257del (p.Lys86fs) | Pathogenic | recombinase activating gene 1 deficiency | 2024-01-17 | 1.0 | ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RAG1 Version 1.0.0 | RAG1 |
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