ClinVar Miner

Variants in gene PKP2

Minimum submission review status: Collection method:
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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 total
102 83 293 165 51 580

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Arrhythmogenic right ventricular cardiomyopathy, type 9 51 10 125 75 33 279
not provided 67 29 72 11 3 179
not specified 0 0 66 87 34 167
Arrhythmogenic right ventricular cardiomyopathy 12 43 68 25 4 142
Cardiomyopathy 3 5 37 42 21 104
Cardiovascular phenotype 19 3 38 18 13 91
Arrhythmogenic right ventricular dysplasia/cardiomyopathy 2 3 1 1 0 7
Cardiac arrhythmia 4 0 0 0 0 4
Primary familial hypertrophic cardiomyopathy 0 0 3 0 1 4
Arrhythmogenic ventricular cardiomyopathy 2 0 0 0 0 2
Primary dilated cardiomyopathy 0 0 2 0 0 2
Ventricular tachycardia 0 1 1 0 0 2
AV junctional rhythm; Ventricular tachycardia 0 0 1 0 0 1
Becker muscular dystrophy 0 0 1 0 0 1
Brugada syndrome 0 0 1 0 0 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
Left ventricular noncompaction 0 0 1 0 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
Ventricular fibrillation 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 46 7 113 62 28 256
GeneDx 63 25 49 59 25 221
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 8 37 52 41 18 156
Ambry Genetics 19 2 38 18 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 15 7 5 41
Biesecker Lab/Human Development 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
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
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 6 1 4 3 1 15
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 4 0 5 1 3 13
CSER_CC_NCGL; University of Washington Medical Center 0 2 7 2 0 11
PreventionGenetics 0 0 0 4 5 9
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 5 2 0 0 0 7
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 3 1 1 6
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 3 3 0 6
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
HudsonAlpha Institute for Biotechnology 3 0 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
RBHT Clinical Genetics and Genomics Laboratory,Royal Brompton and Harefield NHS Foundation Trust 2 0 0 0 0 2
Baylor Miraca Genetics Laboratories, 1 0 0 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 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

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