ClinVar Miner

Submissions for variant NM_000448.3(RAG1):c.60C>T (p.His20=)

gnomAD frequency: 0.00007  dbSNP: rs138801620
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000645693 SCV000767444 likely benign Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2023-12-29 criteria provided, single submitter clinical testing

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