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See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys)
Benign
severe combined immunodeficiency due to DCLRE1C deficiency2024-01-17
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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