ClinVar Miner

Submissions for variant NM_013266.4(CTNNA3):c.1787G>A (p.Ser596Asn)

gnomAD frequency: 0.47526  dbSNP: rs4548513
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 RCV001520451 SCV001729545 benign Arrhythmogenic right ventricular dysplasia 13 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001655779 SCV001868306 benign not provided 2018-09-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31182772, 17209133)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001699572 SCV003928367 likely benign not specified 2023-04-04 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001699572 SCV001922226 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001699572 SCV001952664 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001699572 SCV001966592 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.