ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.391G>A (p.Glu131Lys)

gnomAD frequency: 0.00222  dbSNP: rs146220228
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001081710 SCV000629752 benign X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2025-02-03 criteria provided, single submitter clinical testing
Mendelics RCV000990810 SCV001141853 likely benign X-linked severe congenital neutropenia 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000514559 SCV001246840 benign not provided 2023-11-01 criteria provided, single submitter clinical testing WAS: BS1, BS2
GeneDx RCV000514559 SCV001787712 likely benign not provided 2021-08-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32185379, 28008999, 27153395, 8528199, 24728327, 19817875)
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002280873 SCV002569277 uncertain significance Thrombocytopenia 1 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001081710 SCV002809620 likely benign X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2022-04-13 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315781 SCV004016222 benign Wiskott-Aldrich syndrome 2023-07-07 criteria provided, single submitter clinical testing
ITMI RCV000122268 SCV000086493 not provided not specified 2013-09-19 no assertion provided reference population
PreventionGenetics, part of Exact Sciences RCV003975089 SCV004787952 likely benign WAS-related disorder 2019-05-06 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.