ClinVar Miner

Submissions for variant NM_000219.6(KCNE1):c.*457G>A

gnomAD frequency: 0.00003  dbSNP: rs886057024
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
Illumina Laboratory Services, Illumina RCV000269991 SCV000435755 uncertain significance Congenital long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000325014 SCV000435756 uncertain significance Jervell and Lange-Nielsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000370314 SCV000435757 uncertain significance Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480196 SCV002784503 uncertain significance Jervell and Lange-Nielsen syndrome 2; Long QT syndrome 5 2021-09-15 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.