ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.209G>T (p.Ser70Ile) (rs75909145)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000242206 SCV000318070 benign Cardiovascular phenotype 2014-12-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000038197 SCV000051585 benign not specified 2013-06-24 criteria provided, single submitter research
Color RCV000776016 SCV000910563 benign Cardiomyopathy 2018-03-13 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000206028 SCV000744716 benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000206028 SCV000733171 benign Arrhythmogenic right ventricular cardiomyopathy, type 9 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000038197 SCV000224452 benign not specified 2014-12-19 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000206028 SCV000743462 benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2014-10-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000289229 SCV000378474 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000206028 SCV000261952 benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2017-08-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038197 SCV000061864 benign not specified 2012-02-06 criteria provided, single submitter clinical testing Ser70Ile in exon 1 of PKP2: This variant is classified as benign based on its hi gh frequency in the general population (NHLBI Exome sequencing project, http://e vs.gs.washington.edu/EVS).
PreventionGenetics RCV000038197 SCV000310494 benign not specified 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.