ClinVar Miner

Variants in gene PKP2

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

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
304 187 1273 814 120 28 2358

Condition and significance breakdown #

Total conditions: 58
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Arrhythmogenic right ventricular dysplasia 9 239 79 799 525 54 0 1608
Cardiomyopathy 50 27 466 354 38 0 914
Cardiovascular phenotype 87 16 381 274 19 0 774
Arrhythmogenic right ventricular cardiomyopathy 49 55 416 205 17 0 720
not provided 98 46 227 120 71 1 531
not specified 0 0 101 126 55 0 234
PKP2-related disorder 7 0 13 17 4 0 41
Familial isolated arrhythmogenic right ventricular dysplasia 24 5 1 1 0 0 31
Primary dilated cardiomyopathy 0 0 6 1 0 0 7
Uterine corpus endometrial carcinoma 0 0 0 0 0 6 6
Ovarian serous cystadenocarcinoma 0 0 0 0 0 5 5
Gastric cancer 0 0 0 0 0 4 4
Hypertrophic cardiomyopathy 1 1 0 2 0 0 4
Primary familial hypertrophic cardiomyopathy 0 0 3 0 1 0 4
Ventricular tachycardia 1 1 1 1 0 0 4
Acute myeloid leukemia 0 0 0 0 0 3 3
Cardiac arrhythmia 3 0 0 0 0 0 3
Cervical cancer 0 0 0 0 0 3 3
Long QT syndrome 0 0 2 1 0 0 3
Lung cancer 0 0 0 0 0 3 3
Malignant tumor of esophagus 0 0 0 0 0 3 3
Sudden unexplained death 2 1 0 0 0 0 3
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 3 3
Arrhythmogenic ventricular cardiomyopathy 2 0 0 0 0 0 2
Cholangiocarcinoma 0 0 0 0 0 2 2
Colon adenocarcinoma 0 0 0 0 0 2 2
Familial cancer of breast 0 0 0 0 0 2 2
Left ventricular noncompaction 0 0 2 0 0 0 2
Left ventricular noncompaction cardiomyopathy 0 2 0 0 0 0 2
Papillary renal cell carcinoma type 1 0 0 0 0 0 2 2
AV junctional rhythm; Ventricular tachycardia 0 0 1 0 0 0 1
Amyloidosis, hereditary systemic 1 0 0 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia 1 0 1 0 0 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
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 0 1 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
Germ cell tumor of testis 0 0 0 0 0 1 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Left ventricular noncompaction 1 0 0 1 0 0 0 1
Long QT syndrome 1 0 1 0 0 0 0 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Sarcoma 0 0 0 0 0 1 1
See cases 0 0 1 0 0 0 1
Squamous cell lung carcinoma 0 0 0 0 0 1 1
Sudden cardiac death 0 0 1 0 0 0 1
Thymoma 0 0 0 0 0 1 1
Uterine carcinosarcoma 0 0 0 0 0 1 1
Ventricular fibrillation 0 0 1 0 0 0 1
Ventricular fibrillation, paroxysmal familial, type 1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 118
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 227 36 721 492 40 0 1516
Color Diagnostics, LLC DBA Color Health 46 10 454 348 26 0 884
Ambry Genetics 85 11 375 274 19 0 764
All of Us Research Program, National Institutes of Health 30 8 408 201 14 0 661
GeneDx 83 35 168 96 78 0 460
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 21 42 52 44 19 0 178
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 28 7 54 60 10 0 159
Illumina Laboratory Services, Illumina 2 2 79 25 12 0 120
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 12 15 26 19 19 0 91
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 9 7 20 29 16 0 81
CeGaT Center for Human Genetics Tuebingen 19 2 11 36 7 0 75
Fulgent Genetics, Fulgent Genetics 11 5 53 4 1 0 74
Clinical Genetics, Academic Medical Center 9 0 12 9 34 0 64
Breakthrough Genomics, Breakthrough Genomics 0 0 11 24 26 0 61
Mayo Clinic Laboratories, Mayo Clinic 8 0 20 14 13 0 55
PreventionGenetics, part of Exact Sciences 7 0 13 20 9 0 49
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 5 1 16 10 16 0 48
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 5 0 10 19 12 0 45
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 9 0 7 15 14 0 45
Genome Diagnostics Laboratory, University Medical Center Utrecht 8 0 6 16 12 0 42
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 9 0 10 13 4 0 36
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 1 11 10 10 0 32
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 27 27
Blueprint Genetics 6 4 11 3 1 0 25
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 16 2 6 1 0 0 25
Stanford Center for Inherited Cardiovascular Disease, Stanford University 6 3 8 0 1 0 18
AiLife Diagnostics, AiLife Diagnostics 6 3 7 0 0 0 16
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 10 2 2 0 0 0 14
Eurofins Ntd Llc (ga) 4 0 5 1 3 0 13
Mendelics 0 1 3 0 8 0 12
Revvity Omics, Revvity 4 1 7 0 0 0 12
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
Clinical Genetics Laboratory, Skane University Hospital Lund 6 2 3 0 0 0 11
Juno Genomics, Hangzhou Juno Genomics, Inc 6 4 1 0 0 0 11
Institute of Human Genetics, University of Leipzig Medical Center 6 2 1 0 0 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 2 2 2 0 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 5 1 2 0 0 0 8
Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes 5 0 3 0 0 0 8
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 4 2 1 0 0 0 7
Baylor Genetics 5 2 0 0 0 0 7
Cohesion Phenomics 0 0 0 3 3 0 6
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
Klaassen Lab, Charite University Medicine Berlin 0 3 3 0 0 0 6
Variantyx, Inc. 4 2 0 0 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 3 0 0 0 5
Institute of Human Genetics, Heidelberg University 3 2 0 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 5 0 0 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 1 2 2 0 0 0 5
Clinical Genomics Laboratory, Stanford Medicine 1 0 3 0 0 0 4
Dasa 4 0 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 1 0 0 0 0 4
Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen 1 1 2 0 0 0 4
New York Genome Center 3 0 1 0 0 0 4
OMIM 4 0 0 0 0 0 4
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 2 2 0 0 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 1 1 1 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 2 0 0 0 3
Dept of Medical Biology, Uskudar University 0 0 2 1 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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 3 0 0 0 3
MGZ Medical Genetics Center 2 1 0 0 0 0 3
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 3 0 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 0 0 0 0 0 3
3billion 2 0 0 0 0 0 2
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 0 0 1 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 2 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 0 1 1 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 2
Genetics and Genomics Program, Sidra Medicine 0 0 1 1 0 0 2
Genetics and Molecular Pathology, SA Pathology 2 0 0 0 0 0 2
Genomics England Pilot Project, Genomics England 1 1 0 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 0 1 1 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 2 0 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 1 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 1 0 0 0 0 2
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 2 0 0 2
Molecular Genetics, Royal Melbourne Hospital 2 0 0 0 0 0 2
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 1 1 0 0 0 0 2
Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub 2 0 0 0 0 0 2
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 1 1 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 1 0 0 0 0 2
deCODE genetics, Amgen 1 1 0 0 0 0 2
Athena Diagnostics 1 0 0 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
Cardiology unit, Meyer University Hospital 0 1 0 0 0 0 1
Department of Heart Center, Qingdao Women and Children's Hospital 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 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
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 0 1 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Heart Center, Academic Medical Center Amsterdam 1 0 0 0 0 0 1
Heart Failure and Familial Heart Diseases Unit, Hospital Universitario Virgen de la Victoria 1 0 0 0 0 0 1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
KardioGenetik, Herz- und Diabeteszentrum NRW 0 1 0 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 1 0 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 0 1 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 1 0 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 1 0 0 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 0 1 0 0 1

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