ClinVar Miner

Submissions for variant NM_000448.3(RAG1):c.2393A>G (p.His798Arg)

dbSNP: rs2133297434
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital RCV001530178 SCV001739456 likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2020-02-28 criteria provided, single submitter clinical testing

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