ClinVar Miner

Submissions for variant NM_000022.4(ADA):c.714C>T (p.His238=)

gnomAD frequency: 0.00009  dbSNP: rs577317154
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000913533 SCV001058682 likely benign Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2024-07-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV000913533 SCV001455700 uncertain significance Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2020-01-24 no assertion criteria provided clinical testing

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