ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.2291T>C (p.Leu764Pro)

dbSNP: rs781228418
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000792634 SCV000931940 uncertain significance Generalized epilepsy-paroxysmal dyskinesia syndrome 2021-08-28 criteria provided, single submitter clinical testing
GeneDx RCV004588250 SCV005079739 uncertain significance not provided 2023-12-14 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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.