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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000536.4(RAG2):c.14T>A (p.Met5Lys) | Uncertain Significance | recombinase activating gene 2 deficiency | 2024-05-01 | 1.0 | ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RAG2 Version 1.0.0 | RAG2 |
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