ClinVar Miner

Submissions for variant NM_000022.4(ADA):c.937C>A (p.Arg313=)

gnomAD frequency: 0.00006  dbSNP: rs79249850
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000872720 SCV001014578 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
PreventionGenetics, part of Exact Sciences RCV003948194 SCV004759532 likely benign ADA-related condition 2020-04-20 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).

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