ClinVar Miner

Submissions for variant NM_000536.4(RAG2):c.218G>A (p.Arg73His) (rs762407838)

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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 RCV000681577 SCV000693925 likely pathogenic Histiocytic medullary reticulosis; Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency; Recombinase activating gene 2 deficiency; Primary immunodeficiency 2018-03-06 criteria provided, single submitter research
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626255 SCV000746908 uncertain significance Histiocytic medullary reticulosis 2017-12-18 criteria provided, single submitter clinical testing

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