ClinVar Miner

Submissions for variant NM_000022.4(ADA):c.367del (p.Asp123fs)

dbSNP: rs758073965
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001729699 SCV001977518 pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2021-08-10 criteria provided, single submitter clinical testing
Laboratory of Pediatric Immunoinfectivology, Tor Vergata University RCV000766120 SCV000897598 pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2019-02-28 no assertion criteria provided clinical testing SCID (Severe Combined Immunodeficiency) T-B-NK+; Hyper-IgM

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