ClinVar Miner

Variants in gene PKP2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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 total
108 86 320 218 76 685

Condition and significance breakdown #

Total conditions: 31
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 68 32 77 114 48 324
Arrhythmogenic right ventricular cardiomyopathy, type 9 63 11 156 31 24 271
not specified 0 0 66 95 34 176
Arrhythmogenic right ventricular cardiomyopathy 18 40 69 25 4 146
Cardiomyopathy 3 5 37 43 21 105
Cardiovascular phenotype 20 2 35 21 13 91
Arrhythmogenic right ventricular dysplasia/cardiomyopathy 2 3 1 1 0 7
Primary dilated cardiomyopathy 0 0 5 0 0 5
Primary familial hypertrophic cardiomyopathy 0 0 3 0 2 5
Cardiac arrhythmia 4 0 0 0 0 4
Ventricular tachycardia 1 1 1 1 0 4
Arrhythmogenic ventricular cardiomyopathy 2 0 0 0 0 2
Left ventricular noncompaction 0 0 2 0 0 2
AV junctional rhythm; Ventricular tachycardia 0 0 1 0 0 1
Aborted sudden cardiac death 1 0 0 0 0 1
Amyloidogenic transthyretin amyloidosis 0 0 0 1 0 1
Becker muscular dystrophy 0 0 1 0 0 1
Brugada syndrome 0 0 1 0 0 1
Brugada syndrome; Premature ventricular contraction 0 0 0 0 1 1
Cardiomyopathy; Hypertrophic cardiomyopathy 0 0 0 0 1 1
Dilated cardiomyopathy 1S 0 1 0 0 0 1
Dilated cardiomyopathy 3B 0 0 1 0 0 1
Duchenne muscular dystrophy 0 0 1 0 0 1
Familial dilated cardiomyopathy 0 0 1 0 0 1
Family history of cardiomyopathy 0 0 0 0 1 1
Hypertrophic cardiomyopathy 0 0 0 1 0 1
Long QT syndrome 1 0 1 0 0 0 1
Paroxysmal familial ventricular fibrillation 1 0 0 1 0 0 1
See cases 0 0 1 0 0 1
Sudden unexplained death 0 1 0 0 0 1
Ventricular fibrillation 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 57 8 143 109 30 347
GeneDx 64 26 49 70 47 256
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 13 33 52 44 18 160
Ambry Genetics 20 1 35 21 13 90
Illumina Clinical Services Laboratory,Illumina 1 0 59 22 0 82
Color 1 0 25 36 19 81
Integrated Genetics/Laboratory Corporation of America 8 6 9 13 5 41
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 1 11 10 10 32
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 3 0 6 10 11 30
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 2 3 11 9 3 28
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 8 1 9 4 4 26
Blueprint Genetics 6 4 11 3 1 25
Genome Diagnostics Laboratory,University Medical Center Utrecht 6 0 1 7 10 24
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 6 0 5 8 3 22
Stanford Center for Inherited Cardiovascular Disease, Stanford University 6 3 8 0 1 18
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 11 3 0 16
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 4 0 5 1 3 13
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 1 4 2 4 12
CSER _CC_NCGL, University of Washington 0 2 7 2 0 11
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 2 0 0 6 3 11
Mendelics 0 0 2 0 8 10
PreventionGenetics,PreventionGenetics 0 0 0 4 5 9
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 5 2 0 0 0 7
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 3 3 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 0 0 0 0 6
Fulgent Genetics,Fulgent Genetics 3 0 2 0 0 5
OMIM 4 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 4
Klaassen Lab,Charite University Medicine Berlin 0 1 3 0 0 4
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 2 1 0 0 0 3
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 3 0 0 3
Gharavi Laboratory,Columbia University 3 0 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 3 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 2
RBHT Clinical Genetics and Genomics Laboratory,Royal Brompton and Harefield NHS Foundation Trust 2 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 1
Lineagen, Inc 0 0 1 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 0 1 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 1
Heart Center,Academic Medical Center Amsterdam 1 0 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 1 0 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 1 0 0 0 0 1

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