ClinVar Miner

Variants in gene PKP2

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Gene type:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
146 104 574 294 89 1 1038

Condition and significance breakdown #

Total conditions: 36
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Arrhythmogenic right ventricular dysplasia 9 104 25 369 142 47 0 628
Cardiomyopathy 19 11 253 163 30 0 463
not provided 72 32 81 56 27 1 262
not specified 0 0 76 103 38 0 191
Arrhythmogenic right ventricular cardiomyopathy 18 39 26 12 4 0 92
Cardiovascular phenotype 20 2 34 22 13 0 91
Familial isolated arrhythmogenic right ventricular dysplasia 8 4 1 1 0 0 14
Primary dilated cardiomyopathy 0 0 6 1 0 0 7
Primary familial hypertrophic cardiomyopathy 0 0 3 0 2 0 5
Cardiac arrhythmia 4 0 0 0 0 0 4
Ventricular tachycardia 1 1 1 1 0 0 4
Arrhythmogenic right ventricular dysplasia, familial 1 0 2 1 0 0 0 3
Aborted sudden cardiac death 1 1 0 0 0 0 2
Arrhythmogenic ventricular cardiomyopathy 2 0 0 0 0 0 2
Left ventricular noncompaction 0 0 2 0 0 0 2
Sudden unexplained death 1 1 0 0 0 0 2
AV junctional rhythm; Ventricular tachycardia 0 0 1 0 0 0 1
Amyloidogenic transthyretin amyloidosis 0 0 0 1 0 0 1
Becker muscular dystrophy 0 0 1 0 0 0 1
Brugada syndrome 0 0 1 0 0 0 1
Brugada syndrome; Premature ventricular contraction 0 0 0 0 1 0 1
Cardiomyopathy; Hypertrophic cardiomyopathy 0 0 0 0 1 0 1
Conduction disorder of the heart 0 0 1 0 0 0 1
Dilated cardiomyopathy 1A 0 0 0 1 0 0 1
Dilated cardiomyopathy 1S 0 1 0 0 0 0 1
Dilated cardiomyopathy 3B 0 0 1 0 0 0 1
Duchenne muscular dystrophy 0 0 1 0 0 0 1
Family history of cardiomyopathy 0 0 0 0 1 0 1
Hypertrophic cardiomyopathy 0 0 0 1 0 0 1
Left ventricular noncompaction 1 0 0 1 0 0 0 1
Long QT syndrome 1 0 1 0 0 0 0 1
Paroxysmal familial ventricular fibrillation 1 0 0 1 0 0 0 1
Primary familial dilated cardiomyopathy 0 0 1 0 0 0 1
See cases 0 0 1 0 0 0 1
Sudden cardiac death 0 0 1 0 0 0 1
Ventricular fibrillation 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 52
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 100 20 294 131 30 0 575
Color Health, Inc 15 3 243 157 26 0 444
GeneDx 64 26 49 70 47 0 256
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 14 32 51 44 19 0 160
Illumina Clinical Services Laboratory,Illumina 1 0 99 32 12 0 144
Ambry Genetics 20 1 34 22 13 0 90
Integrated Genetics/Laboratory Corporation of America 13 7 21 25 8 0 74
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 7 6 18 13 9 0 53
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 8 3 13 6 7 0 37
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 1 11 10 10 0 32
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 3 0 6 10 11 0 30
CeGaT Praxis fuer Humangenetik Tuebingen 5 2 15 6 0 0 28
Blueprint Genetics 6 4 11 3 1 0 25
Genome Diagnostics Laboratory,University Medical Center Utrecht 6 0 1 7 10 0 24
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 6 0 5 8 3 0 22
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 1 5 3 10 0 21
Stanford Center for Inherited Cardiovascular Disease, Stanford University 6 3 8 0 1 0 18
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 4 0 5 1 3 0 13
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 7 2 2 0 0 0 11
CSER _CC_NCGL, University of Washington 0 2 7 2 0 0 11
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 2 0 0 6 3 0 11
Mendelics 0 0 2 0 8 0 10
PreventionGenetics, PreventionGenetics 0 0 0 4 5 0 9
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 2 2 2 0 0 8
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 4 2 1 0 0 0 7
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 3 3 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 0 0 0 0 0 6
Fulgent Genetics,Fulgent Genetics 3 0 2 0 0 0 5
OMIM 4 0 0 0 0 0 4
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia 1 1 2 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 2 1 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 0 0 0 0 0 4
Klaassen Lab,Charite University Medicine Berlin 0 1 3 0 0 0 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 3 0 0 0 3
Gharavi Laboratory,Columbia University 3 0 0 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 3 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 2
RBHT Clinical Genetics and Genomics Laboratory,Royal Brompton and Harefield NHS Foundation Trust 2 0 0 0 0 0 2
Genetics and Genomics Program,Sidra Medicine 0 0 1 1 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
Lineagen, Inc 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 0 1 0 0 1
Heart Center,Academic Medical Center Amsterdam 1 0 0 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 1 0 0 0 0 0 1

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