ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.1734G>A (p.Leu578=) (rs150692845)

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
Ambry Genetics RCV000718792 SCV000849656 likely benign History of neurodevelopmental disorder 2017-05-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Illumina Clinical Services Laboratory,Illumina RCV000398935 SCV000377792 likely benign Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299555 SCV000377793 likely benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000470871 SCV000562907 benign Long QT syndrome 2016-11-10 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.