ClinVar Miner

Submissions for variant NC_000011.10:g.(?_36573285)_(36598102_?)del

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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 RCV001031797 SCV001195103 pathogenic Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2021-08-20 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the RAG1 gene has been identified. Loss-of-function variants in RAG1 are known to be pathogenic (PMID: 11133745, 24290284). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. Isolated whole-gene deletions of RAG1 have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 8810255, 25739914). For these reasons, this variant has been classified as Pathogenic.

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