ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile) (rs139399951)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 12
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000243453 SCV000319164 likely benign Cardiovascular phenotype 2018-03-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172527 SCV000051522 likely benign not provided 2013-06-24 criteria provided, single submitter research
Blueprint Genetics RCV000157171 SCV000206895 likely benign Cardiac arrest 2014-08-26 no assertion criteria provided clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770540 SCV000901987 benign Cardiomyopathy 2016-11-28 criteria provided, single submitter clinical testing
CSER_CC_NCGL; University of Washington Medical Center RCV000210891 SCV000264600 likely benign Arrhythmogenic right ventricular cardiomyopathy 2015-12-01 criteria provided, single submitter research
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000172527 SCV000610746 likely benign not provided 2017-03-10 criteria provided, single submitter clinical testing
Color RCV000770540 SCV000903367 likely benign Cardiomyopathy 2018-03-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000228131 SCV000744764 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2017-06-28 criteria provided, single submitter clinical testing
GeneDx RCV000039400 SCV000516119 likely benign not specified 2017-05-25 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 RCV000228131 SCV000743494 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2017-03-17 criteria provided, single submitter clinical testing
Invitae RCV000228131 SCV000290726 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2017-12-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039400 SCV000063084 likely benign not specified 2017-09-04 criteria provided, single submitter clinical testing p.Thr358Ile in exon 8 of DSC2: This variant is not expected to have clinical sig nificance because it has been identified in 0.37% (94/25778) of Finnish chromoso mes, including 3 homozygotes, by the Genome Aggregation Database (gnomAD, http:/ /gnomAD.broadinstitute.org; dbSNP rs139399951).

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.