ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.2350C>T (p.Arg784Trp) (rs12720441)

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
Blueprint Genetics RCV000208497 SCV000263982 likely pathogenic Brugada syndrome 2014-12-17 criteria provided, single submitter clinical testing
Color RCV001183302 SCV001348997 uncertain significance Arrhythmia 2019-07-02 criteria provided, single submitter clinical testing
OMIM RCV000015514 SCV000035779 risk factor Long QT syndrome 2, acquired, susceptibility to 2002-04-23 no assertion criteria provided literature only
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058108 SCV000089628 not provided Congenital long QT syndrome no assertion provided literature only This variant has been reported as associated with Long QT syndrome in the following publications (PMID:11997281;PMID:14760488;PMID:15840476;PMID:19841300). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.

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.