ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.2001C>T (p.Cys667=)

gnomAD frequency: 0.00148  dbSNP: rs58207445
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
Invitae RCV000885846 SCV001029319 benign not provided 2023-12-12 criteria provided, single submitter clinical testing
GeneDx RCV000885846 SCV001988856 benign not provided 2021-08-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000885846 SCV004033572 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing CACNA1G: BP4, BP7

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.