ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.527C>T (p.Thr176Ile) (rs536617217)

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
Color Health, Inc RCV001178811 SCV001343345 uncertain significance Cardiomyopathy 2020-01-21 criteria provided, single submitter clinical testing
Division of Human Genetics,Children's Hospital of Philadelphia RCV000477874 SCV000536718 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 10; Dilated cardiomyopathy 1BB 2016-01-25 no assertion criteria provided research

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.