ClinVar Miner

Submissions for variant NM_000022.4(ADA):c.220G>T (p.Gly74Cys)

dbSNP: rs121908730
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000059095 SCV004213290 likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2023-08-13 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059095 SCV000090616 not provided Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency no assertion provided not provided

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