ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.2113C>T (p.Leu705Phe) (rs199473025)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000858721 SCV000752919 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058201 SCV000089721 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:16244680;PMID:22402334). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.
Blueprint Genetics RCV000143906 SCV000188777 likely benign Arrhythmogenic right ventricular cardiomyopathy 2013-10-09 no assertion criteria provided clinical testing
Blueprint Genetics RCV000143907 SCV000188778 likely benign Primary dilated cardiomyopathy 2013-10-30 no assertion criteria provided clinical testing
Blueprint Genetics RCV000157268 SCV000206999 likely benign Long QT syndrome 2014-05-07 no assertion criteria provided 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.