ClinVar Miner

Submissions for variant NM_000448.3(RAG1):c.2161C>G (p.Leu721Val)

dbSNP: rs1590703677
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788507 SCV000927653 uncertain significance not provided 2018-04-24 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989604 SCV004808085 uncertain significance Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2024-03-29 criteria provided, single submitter clinical testing

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