ClinVar Miner

Submissions for variant NM_000536.4(RAG2):c.1365T>C (p.His455=)

gnomAD frequency: 0.00001  dbSNP: rs369276846
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001478678 SCV001682952 likely benign Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2024-02-12 criteria provided, single submitter clinical testing
GeneDx RCV004801024 SCV005421158 uncertain significance not provided 2024-06-04 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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