ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.2288+20T>C

gnomAD frequency: 0.10447  dbSNP: rs12335955
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001669793 SCV001890249 benign not provided 2018-07-17 criteria provided, single submitter clinical testing
Invitae RCV001669793 SCV002409470 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243386 SCV002514493 benign Chorea-acanthocytosis 2021-12-05 criteria provided, single submitter clinical testing

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.