ClinVar Miner

Submissions for variant NM_000718.4(CACNA1B):c.4308+10C>T

gnomAD frequency: 0.00188  dbSNP: rs144980930
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 RCV000953614 SCV001100192 benign not provided 2025-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000953614 SCV002044078 likely benign not provided 2021-05-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000953614 SCV005224915 likely benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528966 SCV001741628 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001528966 SCV001974766 benign not specified 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.