ClinVar Miner

Submissions for variant NM_000536.4(RAG2):c.1158C>A (p.Phe386Leu) (rs34629171)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127714 SCV000171293 benign not specified 2012-11-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000551519 SCV000646378 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Pediatric Immunology Service,The Chaim Sheba Medical Center at Tel HaShomer RCV000681590 SCV000693938 benign Recombinase activating gene 2 deficiency; Primary immunodeficiency 2018-03-06 criteria provided, single submitter research
Counsyl RCV000670144 SCV000794963 likely benign Combined cellular and humoral immune defects with granulomas; Histiocytic medullary reticulosis; Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive 2017-10-24 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000127714 SCV001157038 benign not specified 2018-11-28 criteria provided, single submitter clinical testing

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