The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
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See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_001033855.3(DCLRE1C):c.586C>T (p.Arg196Trp)
Uncertain Significance
severe combined immunodeficiency due to DCLRE1C deficiency2024-06-13
1.0
ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DCLRE1C Version 1.0.0DCLRE1C
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