ClinVar Miner

Submissions for variant NM_000536.4(RAG2):c.579A>G (p.Thr193=)

dbSNP: rs2133314241
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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 RCV002148023 SCV002430413 likely benign Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2021-10-16 criteria provided, single submitter clinical testing

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