ClinVar Miner

Variants in gene RYR2

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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
120 217 4676 3581 651 13 8352

Condition and significance breakdown #

Total conditions: 50
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Catecholaminergic polymorphic ventricular tachycardia 1 94 116 2497 2479 215 7 5280
Catecholaminergic polymorphic ventricular tachycardia 5 13 1645 855 80 0 2588
Cardiomyopathy 4 4 1331 1074 120 0 2490
Cardiovascular phenotype 10 33 971 770 55 0 1827
not provided 37 60 864 487 460 0 1798
not specified 0 0 264 423 251 2 835
Arrhythmogenic right ventricular dysplasia 2 3 7 208 48 43 0 307
Arrhythmogenic right ventricular dysplasia 2; Catecholaminergic polymorphic ventricular tachycardia 1; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 0 0 157 18 0 0 175
RYR2-related disorder 1 3 27 53 7 0 90
Arrhythmogenic right ventricular cardiomyopathy 1 0 60 9 1 0 70
Catecholaminergic polymorphic ventricular tachycardia 1; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 0 3 36 0 0 0 39
Cardiac arrhythmia 0 1 1 1 25 0 28
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 3 5 17 0 0 0 25
Arrhythmogenic right ventricular dysplasia 2; Catecholaminergic polymorphic ventricular tachycardia 1 1 1 16 0 0 3 21
Long QT syndrome 1 1 17 0 0 0 19
Hypertrophic cardiomyopathy 0 0 15 1 0 0 16
Primary familial hypertrophic cardiomyopathy 0 0 16 0 0 0 16
Primary dilated cardiomyopathy 0 0 9 0 0 0 9
Wolff-Parkinson-White pattern 0 0 6 0 0 0 6
Conduction disorder of the heart 0 2 3 0 0 0 5
Polymorphic ventricular tachycardia 0 0 4 0 0 0 4
Arrhythmogenic right ventricular dysplasia 1 0 0 2 0 0 0 2
Cardiac arrest 0 0 2 0 0 0 2
Childhood-onset schizophrenia 0 2 0 0 0 0 2
Left ventricular noncompaction 0 0 2 0 0 0 2
Primary familial dilated cardiomyopathy 0 0 2 0 0 0 2
See cases 0 0 2 0 0 0 2
Sudden cardiac death 0 0 2 0 0 0 2
Sudden unexplained death 0 0 1 0 1 0 2
Ventricular fibrillation, paroxysmal familial, type 1 0 2 0 0 0 0 2
Arrhythmogenic right ventricular dysplasia 2; Catecholaminergic polymorphic ventricular tachycardia 0 0 0 0 0 1 1
Brugada syndrome 0 0 1 0 0 0 1
Catecholaminergic polymorphic ventricular tachycardia 2 0 1 0 0 0 0 1
Congestive heart failure 0 0 1 0 0 0 1
Death in infancy 1 0 0 0 0 0 1
Diastolic dysfunction 0 0 1 0 0 0 1
Dilated cardiomyopathy 1C 0 0 1 0 0 0 1
Dilated cardiomyopathy with left ventricular noncompaction 0 0 1 0 0 0 1
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 0 0 1
Heart disease 0 0 1 0 0 0 1
Heart, malformation of; Sinus bradycardia; Ventricular hypertrophy; Prolonged QTc interval; Left ventricular noncompaction cardiomyopathy; Abnormal trabecular meshwork morphology 0 0 1 0 0 0 1
Hypertrophic cardiomyopathy 4 0 0 1 0 0 0 1
Left ventricular noncompaction cardiomyopathy 0 1 0 0 0 0 1
Long QT syndrome 1 0 0 1 0 0 0 1
Premature coronary artery atherosclerosis 0 0 1 0 0 0 1
Sudden cardiac arrest 0 0 1 0 0 0 1
Sudden death 0 0 1 0 0 0 1
Syncope 0 0 1 0 0 0 1
Ventricular fibrillation 1 0 0 0 0 0 1
Ventricular tachycardia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 115
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 83 74 2391 2478 185 0 5211
All of Us Research Program, National Institutes of Health 1 0 1575 831 78 0 2485
Color Diagnostics, LLC DBA Color Health 2 1 1274 1056 106 0 2439
Ambry Genetics 8 21 942 770 55 0 1796
GeneDx 35 45 644 430 498 0 1652
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 5 126 142 139 0 414
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 3 119 108 77 2 311
Illumina Laboratory Services, Illumina 0 0 218 95 87 0 306
Breakthrough Genomics, Breakthrough Genomics 0 0 16 77 121 0 214
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 1 14 64 63 56 0 198
Fulgent Genetics, Fulgent Genetics 1 0 173 18 0 0 192
CeGaT Center for Human Genetics Tuebingen 2 4 37 93 25 0 161
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 2 3 73 34 46 0 158
PreventionGenetics, part of Exact Sciences 0 1 27 70 56 0 154
Clinical Genetics, Academic Medical Center 2 0 18 5 108 0 133
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 27 34 60 0 121
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 18 71 18 0 109
Eurofins Ntd Llc (ga) 0 0 45 6 43 0 94
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 12 43 32 0 88
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 5 41 34 0 82
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 8 23 40 0 72
AiLife Diagnostics, AiLife Diagnostics 0 2 67 0 0 0 69
Blueprint Genetics 1 12 37 0 0 0 50
Mayo Clinic Laboratories, Mayo Clinic 2 1 40 0 0 0 43
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 5 31 1 1 0 38
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 22 7 7 0 36
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 10 6 13 2 0 0 31
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 12 15 0 0 0 29
Revvity Omics, Revvity 0 2 24 1 0 0 27
Genome-Nilou Lab 0 0 0 0 23 0 23
Baylor Genetics 2 4 11 0 0 0 17
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 1 1 11 0 2 0 15
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 15 0 0 0 15
Clinical Genetics Laboratory, Skane University Hospital Lund 1 1 13 0 0 0 15
Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes 1 0 13 0 0 0 14
OMIM 12 0 0 0 0 0 12
CSER _CC_NCGL, University of Washington 0 0 11 1 0 0 12
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 0 8 3 1 0 12
MGZ Medical Genetics Center 1 0 9 0 0 0 10
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 4 6 0 0 0 10
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 8 0 0 0 10
Phosphorus, Inc. 0 0 6 4 0 0 10
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 5 1 3 0 9
Institute of Human Genetics, University of Leipzig Medical Center 1 4 3 1 0 0 9
Center for Human Genetics, University of Leuven 0 1 7 0 0 0 8
Medical Research Institute, Tokyo Medical and Dental University 0 0 8 0 0 0 8
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 7 0 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 0 0 0 7
Dept of Medical Biology, Uskudar University 1 0 6 0 0 0 7
Mendelics 0 0 2 1 3 0 6
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 6 0 0 0 6
MVZ Medizinische Genetik Mainz 0 0 6 0 0 0 6
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 1 4 0 0 0 5
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 5 0 0 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 3 1 1 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 0 3 2 0 0 0 5
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 4 0 0 5
Clinical Genomics Laboratory, Stanford Medicine 0 0 5 0 0 0 5
Molecular Genetics Laboratory, Motol Hospital 0 5 0 0 0 0 5
KardioGenetik, Herz- und Diabeteszentrum NRW 1 1 3 0 0 0 5
Lildballe Lab, Aarhus University Hospital 0 3 2 0 0 0 5
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 4 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Genetics and Genomics Program, Sidra Medicine 0 0 4 0 0 0 4
New York Genome Center 0 0 4 0 0 0 4
3billion 0 1 3 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
GeneReviews 0 0 0 0 0 3 3
Center for Medical Genetics Ghent, University of Ghent 1 2 0 0 0 0 3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 2 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 3 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 3 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 0 3
Institute of Immunology and Genetics Kaiserslautern 1 0 2 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 2
Bionano Laboratories 0 0 2 0 0 0 2
Dr. Guy Rouleau's laboratory, McGill University 0 2 0 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 0 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 1 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 2 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 1 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 1 0 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 1 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
ISCA Site 6 0 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 1
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 0 0 1 0 0 0 1
Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Forensic Genetics Laboratory, Harris County Institute of Forensic Sciences 1 0 0 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 1 0 0 0 0 0 1
Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
Klaassen Lab, Charite University Medicine Berlin 0 0 1 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Department of Laboratory Medicine and Genetics, Samsung Medical Center 0 1 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1
Medical Genetics Clinic, University of Catania 0 1 0 0 0 0 1
Cohesion Phenomics 0 0 0 1 0 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 0 1

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