ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.1301A>G (p.Asp434Gly)

gnomAD frequency: 0.00001  dbSNP: rs137853333
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
CeGaT Center for Human Genetics Tuebingen RCV001090819 SCV001246556 pathogenic not provided 2016-10-01 criteria provided, single submitter clinical testing
OMIM RCV000010034 SCV000030255 pathogenic Generalized epilepsy-paroxysmal dyskinesia syndrome 2005-07-01 no assertion criteria provided literature only

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.