ClinVar Miner

Submissions for variant NM_000536.4(RAG2):c.686G>A (p.Arg229Gln) (rs121917894)

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Total submissions: 3
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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 RCV000681586 SCV000693934 uncertain significance Histiocytic medullary reticulosis; 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 RCV000014010 SCV000034257 pathogenic Severe combined immunodeficiency, B cell-negative 2001-05-01 no assertion criteria provided literature only
OMIM RCV000014011 SCV000034258 pathogenic Histiocytic medullary reticulosis 2001-05-01 no assertion criteria provided literature only

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