ClinVar Miner

Submissions for variant NM_000022.4(ADA):c.144C>T (p.Asn48=)

gnomAD frequency: 0.00002  dbSNP: rs189751145
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000924329 SCV001069840 likely benign Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000924329 SCV002095336 likely benign Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2021-02-26 no assertion criteria provided clinical testing

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