ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) (rs143004808)

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Total submissions: 20
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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 RCV000148725 SCV000051586 benign Arrhythmogenic right ventricular cardiomyopathy 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038225 SCV000061893 benign not specified 2015-03-18 criteria provided, single submitter clinical testing p.Asp26Asn in exon 1 of PKP2: This variant is not expected to have clinical sign ificance because it has been identified in 2.3% (349/15114) of European chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs143004808).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000038225 SCV000203289 likely benign not specified 2014-01-09 criteria provided, single submitter clinical testing
GeneDx RCV000038225 SCV000236185 benign not specified 2015-03-18 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.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000038225 SCV000257987 likely benign not specified 2015-07-10 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000038225 SCV000310498 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000246635 SCV000319010 benign Cardiovascular phenotype 2015-06-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000472012 SCV000378478 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000428217 SCV000510739 likely benign not provided 2016-07-22 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000472012 SCV000557331 benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2019-12-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000472012 SCV000743465 benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2015-12-18 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000472012 SCV000744719 benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2015-09-21 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000038225 SCV000747922 benign not specified 2017-04-03 criteria provided, single submitter clinical testing
Color RCV000776026 SCV000910597 benign Cardiomyopathy 2018-03-13 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852680 SCV000995389 benign Cardiomyopathy; Hypertrophic cardiomyopathy 2019-05-28 criteria provided, single submitter clinical testing
Mendelics RCV000472012 SCV001138685 benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000472012 SCV001159090 benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2018-09-28 criteria provided, single submitter clinical testing
CSER _CC_NCGL, University of Washington RCV000148725 SCV000190457 likely benign Arrhythmogenic right ventricular cardiomyopathy 2014-06-01 no assertion criteria provided research
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000038225 SCV000280417 benign not specified 2011-12-08 no assertion criteria provided clinical testing Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000472012 SCV000733173 benign Arrhythmogenic right ventricular cardiomyopathy, type 9 no assertion criteria provided clinical testing

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