ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.1794T>C (p.Ser598=)

gnomAD frequency: 0.00787  dbSNP: rs34503140
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081317 SCV000562841 benign Brugada syndrome 4 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620685 SCV000735161 benign Cardiovascular phenotype 2015-08-07 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001081317 SCV000883537 benign Brugada syndrome 4 2020-05-05 criteria provided, single submitter clinical testing
GeneDx RCV001706447 SCV001892000 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001699297 SCV001918701 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001699297 SCV001956122 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.