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See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_000448.3(RAG1):c.2904C>A (p.Asn968Lys)
Uncertain Significance
recombinase activating gene 1 deficiency2024-05-07
1.0
ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RAG1 Version 1.0.0RAG1
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