ClinVar Miner

Submissions for variant NM_000022.4(ADA):c.556G>A (p.Glu186Lys)

dbSNP: rs1555844416
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672186 SCV000797266 uncertain significance Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2018-03-30 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000672186 SCV004809978 uncertain significance Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2024-04-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV000672186 SCV005060086 likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2024-03-18 criteria provided, single submitter clinical testing

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