ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.6344G>C (p.Gly2115Ala) (rs199694744)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171620 SCV000050655 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Invitae RCV001084323 SCV000627591 likely benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617997 SCV000737776 likely benign Cardiovascular phenotype 2017-11-07 criteria provided, single submitter clinical testing In silico models in agreement (benign);Insufficient evidence;Subpopulation frequency in support of benign classification

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.