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See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_000022.4(ADA):c.445C>T (p.Arg149Trp)
Likely Pathogenic
adenosine deaminase deficiency2024-01-16
1.0
ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ADA Version 1.0.0ADA
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