ClinVar Miner

Submissions for variant NM_000022.4(ADA):c.1065T>C (p.Pro355=)

gnomAD frequency: 0.00003  dbSNP: rs371814756
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000978340 SCV001126268 likely benign Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2024-01-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV000978340 SCV001460801 likely benign Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2020-09-16 no assertion criteria provided clinical testing

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