ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.538C>A (p.His180Asn)

gnomAD frequency: 0.00063  dbSNP: rs145040665
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) 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
Labcorp Genetics (formerly Invitae), Labcorp RCV001086760 SCV000754528 benign X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000419963 SCV001501102 likely benign not provided 2020-12-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030596 SCV000053274 likely benign Thrombocytopenia 1 2015-10-02 no assertion criteria provided clinical testing
ITMI RCV000122270 SCV000086495 not provided not specified 2013-09-19 no assertion provided reference population
PreventionGenetics, part of Exact Sciences RCV003914875 SCV004734925 benign WAS-related disorder 2020-07-02 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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