ClinVar Miner

Submissions for variant NM_000536.4(RAG2):c.1433G>A (p.Cys478Tyr) (rs121918573)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric Immunology Service,The Chaim Sheba Medical Center at Tel HaShomer RCV000681602 SCV000693950 uncertain significance Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive; Recombinase activating gene 2 deficiency; Primary immunodeficiency 2018-03-06 criteria provided, single submitter research
OMIM RCV000014009 SCV000034256 pathogenic Severe combined immunodeficiency, B cell-negative 1996-10-04 no assertion criteria provided literature only

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