ClinVar Miner

Submissions for variant NM_000536.4(RAG2):c.1504A>G (p.Met502Val) (rs145614809)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508579 SCV000605000 uncertain significance not specified 2016-10-11 criteria provided, single submitter clinical testing
Pediatric Immunology Service,The Chaim Sheba Medical Center at Tel HaShomer RCV000681604 SCV000693952 benign Histiocytic medullary reticulosis; Recombinase activating gene 2 deficiency; Primary immunodeficiency 2018-03-06 criteria provided, single submitter research
Invitae RCV000645688 SCV000767439 likely benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Counsyl RCV000669183 SCV000793910 uncertain significance Combined cellular and humoral immune defects with granulomas; Histiocytic medullary reticulosis; Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive 2017-09-12 criteria provided, single submitter clinical testing

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