ClinVar Miner

Submissions for variant NM_031418.4(ANO3):c.2682C>T (p.Pro894=)

gnomAD frequency: 0.55889  dbSNP: rs10835051
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 RCV001516884 SCV001725248 benign Dystonic disorder 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001692409 SCV001908894 benign not provided 2018-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260165 SCV002539176 benign Dystonia 24 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001692409 SCV005323009 benign not provided criteria provided, single submitter not provided

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.