ClinVar Miner

Submissions for variant NM_031418.4(ANO3):c.1911C>T (p.Phe637=)

gnomAD frequency: 0.00122  dbSNP: rs77422010
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
GeneDx RCV000528630 SCV001942018 benign not provided 2021-02-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060292 SCV002478741 benign Dystonic disorder 2025-01-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259987 SCV002539166 benign Dystonia 24 2021-12-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925577 SCV004745768 benign ANO3-related disorder 2019-06-03 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).

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.