ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.2365_2367GGA[1] (p.Gly790del) (rs377272752)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000253898 SCV000318187 uncertain significance Cardiovascular phenotype 2013-01-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Rarity in general population databases (dbsnp, esp, 1000 genomes)
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000626335 SCV000054840 benign Cardiomyopathy, arrhythmogenic right ventricular dysplasia 2018-04-05 criteria provided, single submitter research
Blueprint Genetics RCV000157177 SCV000206901 likely pathogenic Arrhythmogenic right ventricular cardiomyopathy 2014-03-17 no assertion criteria provided clinical testing
Color RCV000771253 SCV000903356 benign Cardiomyopathy 2018-03-16 criteria provided, single submitter clinical testing
GeneDx RCV000215675 SCV000233450 benign not specified 2017-02-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000472144 SCV000743490 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2016-12-08 criteria provided, single submitter clinical testing
Invitae RCV000472144 SCV000561699 benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2018-01-19 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000215675 SCV000269038 benign not specified 2015-04-23 criteria provided, single submitter clinical testing p.Gly790del in exon 15 of DSC2: This variant is not expected to have clinical si gnificance because it has been identified in 1.8% (153/8642) of East Asian chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs377272752).

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.