ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1393+28111T>G

gnomAD frequency: 0.56819  dbSNP: rs114030398
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000279834 SCV000370316 benign Short QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000351241 SCV000370317 benign Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000395201 SCV000370318 benign Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000312501 SCV000370319 benign Congenital long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000364803 SCV000370320 benign Jervell and Lange-Nielsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718418 SCV005321349 benign not provided criteria provided, single submitter not provided

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.