ClinVar Miner

Variants studied for familial isolated arrhythmogenic right ventricular dysplasia

Included ClinVar conditions (26):
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
1075 440 9097 7608 773 22 18114

Gene and significance breakdown #

Total genes and gene combinations: 58
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RYR2 94 120 2605 2525 216 10 5313
DSP 463 87 1521 1696 212 2 3695
PKP2 219 73 725 485 54 0 1468
DSC2 59 29 854 459 35 0 1364
DSG2 93 53 770 460 47 1 1349
JUP 27 7 620 435 35 3 1077
TRDN 32 16 426 476 51 1 996
TMEM43 2 2 501 305 30 1 822
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 72 69 5 0 136
DSC2, DSCAS 4 3 42 21 2 0 70
DSG2, LOC130062340 4 6 28 23 1 0 56
TGFB3 3 4 31 5 0 0 42
CDH2 3 1 5 2 0 0 11
SCN5A 6 0 2 0 0 0 8
LOC130007664, PKP2 0 0 6 1 0 0 7
PLEC 0 0 2 4 0 0 6
TTN 1 1 3 1 0 0 6
ACTN2, MT1HL1, MTR, RYR2 0 0 5 0 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
MYBPC3 0 0 3 1 0 0 4
LMNA 0 2 1 0 0 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
LOC129390434, PKP2 1 0 1 0 0 0 2
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
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
DES 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
KCNH2 0 0 1 0 0 0 1
LAMA4 0 0 1 0 0 0 1
LOC126806427, TTN 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
MYH6 0 0 1 0 0 0 1
MYH7 0 0 1 0 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
SCN4B 0 0 1 0 0 0 1
TRPM4 0 0 1 0 0 0 1
TUBB3 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 110
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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
Fulgent Genetics, Fulgent Genetics 23 39 843 108 17 0 1030
All of Us Research Program, National Institutes of Health 1 0 673 248 19 0 941
Illumina Laboratory Services, Illumina 1 1 652 219 147 0 916
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 31 13 64 6 0 0 114
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 16 12 21 0 0 0 49
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 4 0 8 17 19 0 48
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 28 13 0 0 0 0 41
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 2 37 0 0 0 40
OMIM 37 0 2 0 0 0 39
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
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
Blueprint Genetics 1 13 15 0 0 0 29
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 5 16 3 0 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
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 1 3 10 1 1 0 16
Clinical Genomics Laboratory, Stanford Medicine 1 0 15 0 0 0 16
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
CSER _CC_NCGL, University of Washington 0 0 5 4 0 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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 1 3 0 0 0 8
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
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
Clinical Genomics Laboratory, Washington University in St. Louis 1 3 2 0 0 0 6
Genetics and Molecular Pathology, SA Pathology 3 0 3 0 0 0 6
Molecular Genetics Laboratory, Motol Hospital 1 5 0 0 0 0 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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 5 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
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 1 2 1 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 2 0 2 0 4
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
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
Molecular Genetics, Royal Melbourne Hospital 0 0 3 0 1 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
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 1 0 1 0 1 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
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 2
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 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
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 2 0 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
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 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
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 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
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
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
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

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