ClinVar Miner

Submissions for variant NM_000536.4(RAG2):c.487C>T (p.Pro163Ser)

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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 RCV004764728 SCV005374372 uncertain significance Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2024-09-22 criteria provided, single submitter clinical testing

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