ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2085G>A (p.Thr695=) (rs554396523)

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
Invitae RCV000540581 SCV000641970 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2020-12-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000611345 SCV000712955 likely benign not specified 2017-02-10 criteria provided, single submitter clinical testing p.Thr695Thr in exon 14 of DSG2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 4/66734 European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs554396523).
Ambry Genetics RCV000621592 SCV000737560 likely benign Cardiovascular phenotype 2016-06-29 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Color Health, Inc RCV001179325 SCV001343961 likely benign Cardiomyopathy 2018-11-30 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.