ClinVar Miner

Variants studied for arrhythmogenic right ventricular cardiomyopathy

Included ClinVar conditions (37):
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 not provided total
1107 550 9690 7814 788 23 18852

Gene and significance breakdown #

Total genes and gene combinations: 88
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RYR2 95 120 2654 2532 216 10 5358
DSP 467 123 1545 1705 213 3 3730
PKP2 232 118 904 552 55 0 1719
DSG2 96 67 992 529 48 1 1585
DSC2 61 35 872 461 36 0 1382
JUP 31 10 640 439 36 3 1087
TRDN 32 16 426 476 51 1 996
TMEM43 2 2 517 306 30 1 836
CTNNA3 2 1 503 253 52 2 806
CASQ2 45 17 179 265 21 0 524
LOC126806068, RYR2 12 12 161 122 7 1 296
LOC126806067, RYR2 0 0 73 69 5 0 136
DSC2, DSCAS 4 3 47 21 2 0 75
DSG2, LOC130062340 4 6 43 25 2 0 71
TGFB3 3 4 38 5 0 0 49
TMEM43, XPC 0 0 0 21 0 0 21
TTN 1 1 8 8 3 0 21
SCN5A 7 0 7 1 0 0 15
CDH2 3 1 5 2 0 0 11
LOC130007664, PKP2 0 0 7 2 0 0 9
LMNA 1 3 2 0 0 0 6
PLEC 0 0 2 4 0 0 6
ACTN2, MT1HL1, MTR, RYR2 0 0 5 0 0 0 5
DES 1 3 1 0 0 0 5
MYBPC3 1 0 3 1 0 0 5
CASQ2, VANGL1 0 0 0 0 4 0 4
DSG2, TTR 0 0 4 0 0 0 4
JUP, LOC130060847 0 0 3 0 1 0 4
LAMA4 0 0 4 0 0 0 4
RBM20 0 0 3 0 1 0 4
ABCC9 0 0 1 1 1 0 3
DMD 0 0 3 0 0 0 3
FLNC 1 0 2 0 0 0 3
MYH6 0 0 2 1 0 0 3
TRPM4 0 0 2 0 1 0 3
ANK2 0 1 1 0 0 0 2
CALM1 0 2 0 0 0 0 2
CTNNA3, LOC132089820, LOC132089821 0 0 2 0 0 0 2
DNM1L, FGD4, PKP2, YARS2 0 0 2 0 0 0 2
DSP, LOC110121274 2 0 0 0 0 0 2
IFT43, TGFB3 0 0 0 2 0 0 2
KCNE1 0 0 2 0 0 0 2
KCNH2 0 0 1 1 0 0 2
LOC129390434, PKP2 1 0 1 0 0 0 2
TMPO 0 0 0 1 1 0 2
ABCC9, KCNJ8 0 0 1 0 0 0 1
ACTN2 0 1 0 0 0 0 1
AKAP9 0 0 0 1 0 0 1
ANK2, LOC126807137 0 0 1 0 0 0 1
ATP1A1, CASQ2, LINC01649, MAB21L3, NHLH2, SLC22A15 0 0 1 0 0 0 1
BAG3 0 0 1 0 0 0 1
BMP6, DSP, SNRNP48 0 0 1 0 0 0 1
C2orf49, FHL2 0 0 1 0 0 0 1
CACNA1C 0 0 0 1 0 0 1
CACNB2 0 0 1 0 0 0 1
CALR3 0 0 0 1 0 0 1
CEP85L, PLN 1 0 0 0 0 0 1
CRADD 1 0 0 0 0 0 1
CTNNA3, LOC101928961, LRRTM3 0 0 1 0 0 0 1
CTNNA3, LOC126860948, LOC132089819, LOC132089820, LOC132089821 0 0 1 0 0 0 1
CTNNA3, LRRTM3 0 0 1 0 0 0 1
DMPK 0 0 1 0 0 0 1
DNM1L, FGD4, LOC126861496, LOC126861497, LOC129390433, LOC129390434, LOC130007663, PKP2, YARS2 0 0 1 0 0 0 1
DSC1, DSC2, DSG1, DSG2, DSG3, DSG4, TTR 1 0 0 0 0 0 1
FPGT-TNNI3K, TNNI3K 0 1 0 0 0 0 1
HCN4 0 0 1 0 0 0 1
LDB3 0 0 0 1 0 0 1
LOC101927055, TTN 0 0 0 1 0 0 1
LOC126806425, TTN 0 0 0 1 0 0 1
LOC126806427, TTN 0 0 1 0 0 0 1
LOC126806430, TTN 0 0 0 0 1 0 1
LOC126861897, MHRT, MYH7 0 0 1 0 0 0 1
LOC126861898, MYH7 0 0 1 0 0 0 1
LOC129389631, TRDN 0 0 1 0 0 0 1
MHRT, MYH7 0 1 0 0 0 0 1
MYH7 0 0 1 0 0 0 1
MYL2 0 0 1 0 0 0 1
MYOM1 0 0 1 0 0 0 1
MYPN 0 0 0 1 0 0 1
NEXN 0 0 1 0 0 0 1
PRKAG2 0 0 1 0 0 0 1
PRKAR1A 0 1 0 0 0 0 1
PTPN11 0 0 0 1 0 0 1
RYR1 0 1 0 0 0 0 1
SCN4B 0 0 1 0 0 0 1
SGCA 0 0 0 1 0 0 1
SOS1 0 0 0 0 1 0 1
TUBB3 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 122
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1010 233 7820 7290 708 0 17061
All of Us Research Program, National Institutes of Health 33 9 1549 642 53 0 2286
Illumina Laboratory Services, Illumina 1 1 797 277 148 0 1104
Fulgent Genetics, Fulgent Genetics 23 39 843 108 17 0 1030
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 28 90 6 0 0 0 124
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 32 13 67 6 0 0 118
Blueprint Genetics 7 26 52 2 0 0 87
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 8 9 29 3 3 0 52
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 16 12 21 0 0 0 49
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 29 14 2 0 3 0 48
CSER _CC_NCGL, University of Washington 0 5 33 10 0 0 48
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 4 0 8 17 19 0 48
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 2 3 11 20 12 0 48
Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes 13 0 32 0 0 0 45
OMIM 42 0 2 0 0 0 44
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 26 7 7 0 40
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 2 37 0 0 0 40
Genome Diagnostics Laboratory, University Medical Center Utrecht 7 0 2 14 16 0 39
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 5 15 17 0 0 0 37
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 6 2 7 13 9 0 37
Baylor Genetics 10 9 17 0 0 0 36
New York Genome Center 4 3 29 0 0 0 36
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 5 21 3 0 0 32
Institute of Human Genetics, University of Leipzig Medical Center 9 10 10 3 0 0 32
Genome-Nilou Lab 0 0 0 0 32 0 32
Revvity Omics, Revvity 6 1 22 2 0 0 31
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 0 8 6 14 0 30
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 1 5 11 10 0 27
Juno Genomics, Hangzhou Juno Genomics, Inc 7 16 3 0 0 0 26
Mendelics 1 2 5 1 14 0 23
MGZ Medical Genetics Center 3 4 13 0 0 0 20
Clinical Genomics Laboratory, Stanford Medicine 1 0 16 0 0 0 17
Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen 2 1 11 1 0 0 15
Neuberg Centre For Genomic Medicine, NCGM 2 3 10 0 0 0 15
KardioGenetik, Herz- und Diabeteszentrum NRW 2 6 7 0 0 0 15
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 6 0 3 4 0 0 13
GeneReviews 0 0 0 0 0 10 10
Phosphorus, Inc. 0 0 8 1 1 0 10
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 1 4 0 0 0 9
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 2 1 5 0 1 0 9
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 8 0 0 0 9
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 2 3 1 0 0 9
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 7 0 1 0 0 0 8
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 8 0 0 0 8
Genetics and Molecular Pathology, SA Pathology 4 0 4 0 0 0 8
MVZ Medizinische Genetik Mainz 0 1 7 0 0 0 8
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 4 3 0 0 0 0 7
deCODE genetics, Amgen 1 6 0 0 0 0 7
Molecular Genetics, Royal Melbourne Hospital 3 0 3 0 1 0 7
Clinical Genomics Laboratory, Washington University in St. Louis 1 3 2 0 0 0 6
Molecular Genetics Laboratory, Motol Hospital 1 5 0 0 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 6 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 2 0 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Institute of Human Genetics, Heidelberg University 3 2 0 0 0 0 5
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 3 0 2 0 0 0 5
Genomics England Pilot Project, Genomics England 1 4 0 0 0 0 5
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 3 1 0 0 4
Heart Center, Academic Medical Center Amsterdam 2 2 0 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 1 0 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 2 2 0 0 0 0 4
Klaassen Lab, Charite University Medicine Berlin 0 3 1 0 0 0 4
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 2 0 1 0 4
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 2 0 0 0 4
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 1 3 0 0 0 0 4
Centogene AG - the Rare Disease Company 0 1 2 0 0 0 3
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 3 0 0 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 0 0 0 0 0 3
Center for Medical Genetics Ghent, University of Ghent 1 2 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 1 2 0 0 0 3
3billion, Medical Genetics 1 2 0 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 2 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 1 0 0 0 3
Institute of Immunology and Genetics Kaiserslautern 1 0 2 0 0 0 3
Cardiac Research Department, West China Second University Hospital 3 0 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 1 0 0 0 2
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 1 1 0 0 0 0 2
Rampazzo Lab, Human Molecular Genetics Unit, University of Padua 1 1 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 1 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 2 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 2 0 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Institute of Human Genetics, Medical University Innsbruck 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Department of Medical Bioinformatics, Sinopath Diagnosis 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Breda Genetics srl 0 1 0 0 0 0 1
Division of Medical Genetics, University of Washington 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 0 0 1 0 0 0 1
Cardiology unit, Meyer University Hospital 0 1 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Departamento de Patología, Instituto de Genética, Universidad Nacional de Colombia 1 0 0 0 0 0 1
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University 0 1 0 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 1 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Arcensus 0 1 0 0 0 0 1
Cardiology, Hunan Children’s Hospital 0 1 0 0 0 0 1
Genotypic Technology Pvt Ltd 0 0 1 0 0 0 1
Department of Genetics, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran 0 1 0 0 0 0 1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 0 1 0 0 0 0 1
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University 0 1 0 0 0 0 1

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