ClinVar Miner

Submissions for variant NM_000022.4(ADA):c.639C>T (p.Val213=)

gnomAD frequency: 0.00001  dbSNP: rs575603724
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644514 SCV000766212 likely benign Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2024-01-30 criteria provided, single submitter clinical testing

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