ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.631-13dup

gnomAD frequency: 0.00026  dbSNP: rs551337657
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181125 SCV000233401 benign Cardiomyopathy 2014-09-18 criteria provided, single submitter clinical testing The variant is found in ARVC,CARDIOMYOPATHY panel(s).
Color Diagnostics, LLC DBA Color Health RCV000181125 SCV000914036 likely benign Cardiomyopathy 2018-05-21 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196780 SCV001367413 likely benign Arrhythmogenic right ventricular dysplasia 11 2018-09-25 criteria provided, single submitter clinical testing This variant was classified as: Likely benign. The following ACMG criteria were applied in classifying this variant: BS2,BP7.
Labcorp Genetics (formerly Invitae), Labcorp RCV001196780 SCV002394865 likely benign Arrhythmogenic right ventricular dysplasia 11 2024-01-11 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.