ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.3717+69C>T

gnomAD frequency: 0.06936  dbSNP: rs55641425
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000860352 SCV001000382 benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554536 SCV001775790 benign Timothy syndrome 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001712795 SCV001941521 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001712795 SCV005234694 benign not provided criteria provided, single submitter not provided

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.