ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.1518C>T (p.Arg506=)

gnomAD frequency: 0.01090  dbSNP: rs34813638
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124108 SCV000167517 benign not specified 2013-01-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000205522 SCV000259568 benign Brugada syndrome 4 2024-01-29 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587534 SCV000700052 benign not provided 2016-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621934 SCV000735236 benign Cardiovascular phenotype 2015-07-15 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.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000205522 SCV000743843 likely benign Brugada syndrome 4 2017-07-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975098 SCV004797745 benign CACNB2-related disorder 2019-05-03 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center RCV000124108 SCV001922444 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.