ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.102G>T (p.Ala34=)

gnomAD frequency: 0.00013  dbSNP: rs370839320
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703822 SCV000524131 uncertain significance not provided 2023-04-10 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this variant does not alter splicing; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards et al., 2015)
Fulgent Genetics, Fulgent Genetics RCV002488922 SCV002800369 likely benign Brugada syndrome 4 2021-08-09 criteria provided, single submitter 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.