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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000215.4(JAK3):c.1744C>T (p.Arg582Trp) | Likely Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency | 2024-01-17 | 1.0 | ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for JAK3 Version 1.0.0 | JAK3 |
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