ClinVar Miner

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

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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
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.
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).
Ambry Genetics RCV000253898 SCV000318187 uncertain significance Cardiovascular phenotype 2013-01-04 criteria provided, single submitter clinical testing Insufficient or conflicting evidence;Rarity in general population databases (dbsnp, esp, 1000 genomes)
Invitae RCV000858407 SCV000561699 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
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
Color RCV000771253 SCV000903356 benign Cardiomyopathy 2018-03-16 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852736 SCV000995451 likely benign Hypertrophic cardiomyopathy 2018-05-08 criteria provided, single submitter clinical testing
Mendelics RCV000472144 SCV001140866 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 11 2019-05-28 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000157177 SCV000206901 likely pathogenic Arrhythmogenic right ventricular cardiomyopathy 2014-03-17 no assertion criteria provided clinical testing

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