ClinVar Miner

Submissions for variant NM_000448.3(RAG1):c.522G>A (p.Glu174=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003394817 SCV004130006 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing RAG1: PM2:Supporting, BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003778378 SCV004589940 likely benign Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2023-03-29 criteria provided, single submitter clinical testing

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