ClinVar Miner

Submissions for variant NM_000022.4(ADA):c.822G>A (p.Pro274=)

dbSNP: rs562095440
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000923793 SCV001069287 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
CeGaT Center for Human Genetics Tuebingen RCV003438591 SCV004154590 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing ADA: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003903032 SCV004725676 likely benign ADA-related condition 2019-03-21 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000923793 SCV001455699 likely benign Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2020-04-29 no assertion criteria provided clinical testing

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