ClinVar Miner

Submissions for variant NM_000448.3(RAG1):c.1542G>A (p.Leu514=)

dbSNP: rs1306263654
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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 RCV002179532 SCV002338468 likely benign Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2023-08-10 criteria provided, single submitter clinical testing

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