ClinVar Miner

Submissions for variant NM_000377.2(WAS):c.391G>A (p.Glu131Lys) (rs146220228)

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Total submissions: 3
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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 RCV000514559 SCV000609707 likely benign not provided 2017-06-26 criteria provided, single submitter clinical testing
ITMI RCV000122268 SCV000086493 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000533626 SCV000629752 benign Severe congenital neutropenia X-linked; Thrombocytopenia, X-linked; Wiskott-Aldrich syndrome 2017-06-05 criteria provided, single submitter clinical testing

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