Showing 1 to 1 of 1 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_001033855.3(DCLRE1C):c.350C>T (p.Pro117Leu) | Uncertain Significance | severe combined immunodeficiency due to DCLRE1C deficiency | 2024-02-15 | 1.0 | ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DCLRE1C Version 1.0.0 | DCLRE1C |
Showing 1 to 1 of 1 rows