ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.582T>C (p.Tyr194=)

gnomAD frequency: 0.00002  dbSNP: rs532048791
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001191408 SCV001359229 likely benign Cardiomyopathy 2018-11-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001456785 SCV001660572 likely benign Arrhythmogenic right ventricular dysplasia 9 2024-01-03 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002943 SCV004846508 likely benign Arrhythmogenic right ventricular cardiomyopathy 2024-02-22 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.