ClinVar Miner

Submissions for variant NM_000022.4(ADA):c.674A>T (p.Lys225Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003990231 SCV004806663 uncertain significance Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2024-03-26 criteria provided, single submitter clinical testing

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