ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.3243C>T (p.Val1081=)

gnomAD frequency: 0.00915  dbSNP: rs11542379
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 15
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000037300 SCV000060957 benign not specified 2008-03-27 criteria provided, single submitter clinical testing
Invitae RCV001083740 SCV000287242 benign Arrhythmogenic right ventricular dysplasia 10 2021-12-18 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000037300 SCV000308557 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000247536 SCV000318907 benign Cardiovascular phenotype 2015-07-17 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Laboratory Services,Illumina RCV001083740 SCV000408268 likely benign Arrhythmogenic right ventricular dysplasia 10 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001528838 SCV000883744 benign not provided 2021-07-10 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769523 SCV000900918 likely benign Cardiomyopathy 2015-09-02 criteria provided, single submitter clinical testing
Color Health, Inc RCV000769523 SCV000910669 benign Cardiomyopathy 2018-04-19 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000037300 SCV001433177 benign not specified 2019-10-09 criteria provided, single submitter clinical testing
GeneDx RCV001528838 SCV001948982 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528838 SCV001741260 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000037300 SCV001930357 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000037300 SCV001952216 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000037300 SCV001973617 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000037300 SCV001978897 benign not specified no assertion criteria provided 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.