ClinVar Miner

Submissions for variant NM_000377.2(WAS):c.538C>A (p.His180Asn) (rs145040665)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000419963 SCV000343635 uncertain significance not provided 2016-07-15 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000419963 SCV000511007 likely benign not provided 2017-02-15 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000122270 SCV000515256 likely benign not specified 2015-06-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000122270 SCV000597932 likely benign not specified 2017-01-19 criteria provided, single submitter clinical testing
Invitae RCV000633311 SCV000754528 benign Severe congenital neutropenia X-linked; Thrombocytopenia, X-linked; Wiskott-Aldrich syndrome 2018-01-09 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030596 SCV000053274 likely benign Thrombocytopenia, X-linked 2015-10-02 no assertion criteria provided clinical testing
ITMI RCV000122270 SCV000086495 not provided not specified 2013-09-19 no assertion provided reference population

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