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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_002185.5(IL7R):c.41T>C (p.Leu14Ser) | Uncertain Significance | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive | 2024-04-01 | 1.0 | ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for IL7R Version 1.0.0 | IL7R |
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