ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.1362C>T (p.Val454=)

gnomAD frequency: 0.00427  dbSNP: rs116227985
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 RCV000968356 SCV001115801 benign not provided 2025-01-06 criteria provided, single submitter clinical testing
GeneDx RCV000968356 SCV001981827 likely benign not provided 2021-03-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000968356 SCV004140834 benign not provided 2023-08-01 criteria provided, single submitter clinical testing CACNA1G: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000968356 SCV005218149 likely 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.