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The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in<i>ADA</i>,<i>DCLRE1C</i>,<i>IL2RG</i>,<i>IL7R</i>,<i>JAK3</i>,<i>RAG1</i>, and<i>RAG2</i>

2025-02-13

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> This collaborative study, led by the Clinical Genome Resource Severe Combined Immunodeficiency Disease Variant Curation Expert Panel (ClinGen SCID-VCEP), implemented and adapted the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines for interpreting germline variants in genes with established relationships to SCID. The effo...

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Literature Corpus work
237afbca-51c0-5b23-9f65-990a6dcdf9b7
DOI
10.1101/2025.02.11.25322033
Open publication

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The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in<i>ADA</i>,<i>DCLRE1C</i>,<i>IL2RG</i>,<i>IL7R</i>,<i>JAK3</i>,<i>RAG1</i>, and<i>RAG2</i>DOI 10.1101/2025.02.11.25322033
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