ClinVar Miner

Submissions for variant NM_000448.3(RAG1):c.1137del (p.His379fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003472548 SCV004200478 likely pathogenic Combined immunodeficiency due to partial RAG1 deficiency 2024-03-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005051315 SCV005683459 likely pathogenic Combined immunodeficiency due to partial RAG1 deficiency; Combined immunodeficiency with skin granulomas; Histiocytic medullary reticulosis; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2024-01-24 criteria provided, single submitter clinical testing

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