ClinVar Miner

Submissions for variant NM_000536.4(RAG2):c.836T>C (p.Leu279Pro)

dbSNP: rs1851074227
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini RCV001267789 SCV001424107 uncertain significance Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2020-05-21 no assertion criteria provided clinical testing

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