ClinVar Miner

Submissions for variant NM_000022.4(ADA):c.1077A>T (p.Ala359=)

dbSNP: rs2065316590
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Natera, Inc. RCV001279954 SCV001467092 uncertain significance Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2020-08-14 no assertion criteria provided clinical testing

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