ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.1142G>A (p.Arg381His)

gnomAD frequency: 0.00029  dbSNP: rs202002431
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000460537 SCV000550584 likely benign Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2025-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001569721 SCV001793853 likely benign not provided 2019-12-13 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252635 SCV001428396 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003960033 SCV004776287 likely benign WWOX-related disorder 2021-07-06 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.