ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1528C>T (p.Leu510=) (rs75648145)

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
Invitae RCV000232077 SCV000283961 benign Long QT syndrome 2017-12-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000253513 SCV000319939 likely benign Cardiovascular phenotype 2015-07-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000597187 SCV000702107 benign not specified 2016-10-25 criteria provided, single submitter clinical testing
Color RCV000771158 SCV000903005 benign Arrhythmia 2018-03-08 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.