ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.1641C>T (p.Asp547=)

gnomAD frequency: 0.00033  dbSNP: rs149647577
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
Eurofins Ntd Llc (ga) RCV000174728 SCV000226089 uncertain significance not provided 2014-12-18 criteria provided, single submitter clinical testing
Invitae RCV001087883 SCV001096871 likely benign Generalized epilepsy-paroxysmal dyskinesia syndrome 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000174728 SCV001764379 likely benign not provided 2020-07-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003927598 SCV004738619 likely benign KCNMA1-related condition 2024-02-13 criteria provided, single submitter clinical testing This variant is classified as likely 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.