ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile) (rs75909145)

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Total submissions: 13
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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 RCV000038197 SCV000051585 benign not specified 2013-06-24 criteria provided, single submitter research
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).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000038197 SCV000224452 benign not specified 2014-12-19 criteria provided, single submitter clinical testing
Invitae RCV000206028 SCV000261952 benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000038197 SCV000310494 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000242206 SCV000318070 benign Cardiovascular phenotype 2014-12-08 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 Clinical Services Laboratory,Illumina RCV000206028 SCV000378474 benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2018-03-06 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
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
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
Color RCV000776016 SCV000910563 benign Cardiomyopathy 2018-03-13 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000206028 SCV001157056 benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2018-07-12 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000038197 SCV001433413 likely benign not specified 2019-06-27 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

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