ClinVar Miner

Variants in gene RYR2

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Minimum submission review status: Collection method:
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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
104 180 3621 3019 638 13 6777

Condition and significance breakdown #

Total conditions: 51
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Catecholaminergic polymorphic ventricular tachycardia 1 78 99 2168 2111 210 7 4557
Cardiomyopathy 4 3 1243 969 119 0 2297
not provided 32 56 681 454 448 0 1583
Cardiovascular phenotype 9 15 694 570 55 0 1343
not specified 0 0 247 327 238 2 728
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 0 158 18 0 0 176
Catecholaminergic polymorphic ventricular tachycardia 5 10 83 65 3 0 166
Arrhythmogenic right ventricular cardiomyopathy 1 0 60 9 1 0 70
RYR2-related condition 0 0 17 44 7 0 68
Cardiac arrhythmia 0 1 2 1 25 0 29
Inborn genetic diseases 1 0 28 0 0 0 29
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 16 1 0 0 17
Primary familial hypertrophic cardiomyopathy 0 0 17 0 0 0 17
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 3 3 9 0 0 0 15
Primary dilated cardiomyopathy 0 0 9 0 0 0 9
Catecholaminergic polymorphic ventricular tachycardia 1; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 0 0 8 0 0 0 8
Conduction disorder of the heart 0 2 4 0 0 0 6
Wolff-Parkinson-White pattern 0 0 6 0 0 0 6
Polymorphic ventricular tachycardia 0 0 4 0 0 0 4
Arrhythmogenic right ventricular dysplasia 1 0 0 3 0 0 0 3
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
RYR2-related disorder 0 2 0 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 with left ventricular noncompaction 0 0 1 0 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
Right ventricular cardiomyopathy 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: 100
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 69 68 2073 2144 181 0 4535
Color Diagnostics, LLC DBA Color Health 1 0 1190 949 105 0 2245
GeneDx 31 43 489 430 498 0 1491
Ambry Genetics 8 15 719 570 55 0 1366
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 3 109 80 123 0 317
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 3 119 107 77 2 310
Illumina Laboratory Services, Illumina 0 0 218 95 87 0 306
Fulgent Genetics, Fulgent Genetics 1 0 166 18 0 0 185
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 2 3 73 34 46 0 158
PreventionGenetics, part of Exact Sciences 0 0 17 61 56 0 134
Clinical Genetics, Academic Medical Center 2 0 18 5 108 0 133
CeGaT Center for Human Genetics Tuebingen 2 4 26 71 26 0 129
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 18 71 18 0 109
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 25 27 54 0 106
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
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 2 26 3 12 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
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 12 15 0 0 0 29
Mayo Clinic Laboratories, Mayo Clinic 1 1 26 0 0 0 28
Revvity Omics, Revvity 0 2 24 1 0 0 27
Genome-Nilou Lab 0 0 0 0 23 0 23
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 9 5 7 1 0 0 22
Baylor Genetics 2 4 10 0 0 0 16
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 1 1 11 0 2 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
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
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
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 6 0 0 0 6
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 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
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 4 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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
GeneReviews 0 0 0 0 0 3 3
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 2 1 0 0 0 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
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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 1 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 2 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 0 0 0 0 2
KardioGenetik, Herz- und Diabeteszentrum NRW 0 1 1 0 0 0 2
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 2 0 0 0 2
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
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
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
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
3billion 0 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1
Cohesion Phenomics 0 0 0 1 0 0 1

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