ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.237C>T (p.Val79=)

gnomAD frequency: 0.00001  dbSNP: rs1002646457
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
Color Diagnostics, LLC DBA Color Health RCV001180617 SCV001345583 likely benign Cardiomyopathy 2019-03-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002451374 SCV002735933 likely benign Cardiovascular phenotype 2020-05-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV002558960 SCV003292755 likely benign Arrhythmogenic right ventricular dysplasia 11 2024-11-30 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006671 SCV004819366 likely benign Familial isolated arrhythmogenic right ventricular dysplasia 2023-11-30 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.