ClinVar Miner

Submissions for variant NM_000377.2(WAS):c.995T>C (p.Val332Ala) (rs2737799)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513811 SCV000609774 benign not provided 2017-02-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000122265 SCV000333112 benign not specified 2015-08-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000122265 SCV000597933 likely benign not specified 2016-10-25 criteria provided, single submitter clinical testing
ITMI RCV000122265 SCV000086490 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000633313 SCV000754530 benign Severe congenital neutropenia X-linked; Thrombocytopenia, X-linked; Wiskott-Aldrich syndrome 2018-01-02 criteria provided, single submitter clinical testing
PreventionGenetics RCV000122265 SCV000303904 likely benign not specified criteria provided, single submitter clinical testing

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