ClinVar Miner

Submissions for variant NM_000377.2(WAS):c.1378C>T (p.Pro460Ser) (rs143885622)

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Total submissions: 4
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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 RCV000224336 SCV000280930 benign not provided 2014-12-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000122266 SCV000597937 likely benign not specified 2016-04-06 criteria provided, single submitter clinical testing
ITMI RCV000122266 SCV000086491 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000232307 SCV000284751 benign Severe congenital neutropenia X-linked; Thrombocytopenia, X-linked; Wiskott-Aldrich syndrome 2017-10-14 criteria provided, single submitter clinical testing

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