ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.2838G>A (p.Ala946=)

gnomAD frequency: 0.00011  dbSNP: rs113441525
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000639907 SCV000761493 likely benign Generalized epilepsy-paroxysmal dyskinesia syndrome 2025-01-06 criteria provided, single submitter clinical testing
GeneDx RCV001584472 SCV001817989 likely benign not provided 2021-01-06 criteria provided, single submitter clinical testing
Athena Diagnostics RCV005000426 SCV005621712 benign not specified 2024-12-02 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.