ClinVar Miner

Submissions for variant NM_000722.4(CACNA2D1):c.2837-7A>G

gnomAD frequency: 0.00187  dbSNP: rs112176710
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001078617 SCV000562244 benign Brugada syndrome 2025-01-12 criteria provided, single submitter clinical testing
GeneDx RCV000457754 SCV000716452 likely benign not provided 2021-01-21 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000457754 SCV001142876 benign not provided 2018-12-29 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000602536 SCV001919215 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000457754 SCV001929182 likely benign not provided no assertion criteria provided 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.