ClinVar Miner

Submissions for variant NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu) (rs193922572)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000030396 SCV000053065 likely pathogenic Histiocytic medullary reticulosis 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Pediatric Immunology Service,The Chaim Sheba Medical Center at Tel HaShomer RCV000681591 SCV000693939 uncertain significance Histiocytic medullary reticulosis; Recombinase activating gene 2 deficiency; Primary immunodeficiency 2018-03-06 criteria provided, single submitter research
Blueprint Genetics RCV000788782 SCV000928024 likely pathogenic not provided 2018-10-30 criteria provided, single submitter clinical testing

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