ClinVar Miner

Submissions for variant NM_013266.4(CTNNA3):c.1195C>A (p.Leu399Ile)

gnomAD frequency: 0.00178  dbSNP: rs115276158
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 RCV000474264 SCV000559856 benign Arrhythmogenic right ventricular dysplasia 13 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV001703178 SCV002004154 likely benign not provided 2021-03-10 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700388 SCV001920414 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001703178 SCV001927125 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700388 SCV001969218 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.