ClinVar Miner

Submissions for variant NM_000536.4(RAG2):c.283G>A (p.Gly95Arg) (rs36001797)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671154 SCV000796104 likely pathogenic Combined cellular and humoral immune defects with granulomas; Histiocytic medullary reticulosis; Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive 2017-12-01 criteria provided, single submitter clinical testing
OMIM RCV000014014 SCV000034261 pathogenic Histiocytic medullary reticulosis 2000-08-01 no assertion criteria provided literature only

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