ClinVar Miner

Variants in gene RYR2

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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
50 110 1161 904 383 3 2297

Condition and significance breakdown #

Total conditions: 44
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 27 63 339 471 275 0 1124
Catecholaminergic polymorphic ventricular tachycardia 17 23 616 158 10 0 807
not specified 0 0 176 319 176 2 622
Cardiomyopathy 0 2 136 107 90 0 320
Cardiovascular phenotype 5 5 97 88 40 0 235
Arrhythmogenic right ventricular cardiomyopathy 0 0 150 74 1 0 224
Catecholaminergic polymorphic ventricular tachycardia type 1 13 15 22 4 4 1 55
Arrhythmogenic right ventricular dysplasia, familial, 2; Catecholaminergic polymorphic ventricular tachycardia type 1 1 0 18 0 0 0 19
Primary familial hypertrophic cardiomyopathy 0 0 18 0 0 0 18
Hypertrophic cardiomyopathy 0 0 13 1 0 0 14
Long QT syndrome 0 1 12 0 0 0 13
Primary dilated cardiomyopathy 0 0 10 0 0 0 10
Arrhythmogenic right ventricular dysplasia, familial, 2 3 0 6 0 0 0 9
Wolff-Parkinson-White pattern 0 0 7 0 0 0 7
Inborn genetic diseases 0 1 4 1 0 0 6
Cardiac arrhythmia 0 2 0 1 2 0 5
See cases 0 0 4 0 0 0 4
Ventricular tachycardia, polymorphic 0 0 4 0 0 0 4
Cardiac arrest 0 0 2 0 0 0 2
Childhood-Onset Schizophrenia 0 2 0 0 0 0 2
Conduction disorder of the heart 0 1 1 0 0 0 2
Familial dilated cardiomyopathy 0 0 2 0 0 0 2
Left ventricular noncompaction 0 0 2 0 0 0 2
Paroxysmal familial ventricular fibrillation 1 0 2 0 0 0 0 2
Sudden cardiac death 0 0 2 0 0 0 2
Abnormal heart morphology; Sinus bradycardia; Ventricular hypertrophy; Prolonged QTc interval; Left ventricular noncompaction cardiomyopathy; Abnormality of the trabecular meshwork 0 0 1 0 0 0 1
Arrhythmogenic right ventricular cardiomyopathy, type 9 0 0 1 0 0 0 1
Arrhythmogenic right ventricular dysplasia, familial 1 0 0 1 0 0 0 1
Brugada syndrome 1 0 0 1 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
Esophageal atresia; Pyloric stenosis 0 0 1 0 0 0 1
Familial hypertrophic cardiomyopathy 4 0 0 1 0 0 0 1
Heart disease 0 0 1 0 0 0 1
Left ventricular noncompaction cardiomyopathy 0 1 0 0 0 0 1
Right ventricular cardiomyopathy 0 0 1 0 0 0 1
Sudden death 0 0 1 0 0 0 1
Sudden unexplained 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
Ventricular tachycardia, catecholaminergic polymorphic, 2 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 57
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 15 19 487 443 100 0 1064
GeneDx 27 56 240 289 271 0 883
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 4 124 119 78 2 329
Color 0 0 93 88 78 0 259
Ambry Genetics 4 6 99 89 40 0 238
Illumina Clinical Services Laboratory,Illumina 0 0 136 73 0 0 209
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 51 6 44 0 101
Integrated Genetics/Laboratory Corporation of America 1 3 26 17 47 0 94
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 1 41 21 30 0 93
PreventionGenetics,PreventionGenetics 0 0 0 17 50 0 67
Blueprint Genetics 1 12 41 0 0 0 54
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 32 12 0 0 45
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 16 8 15 0 39
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 4 33 1 1 0 39
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 22 9 7 0 38
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 2 17 3 2 0 24
Fulgent Genetics,Fulgent Genetics 1 0 13 0 0 0 14
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 3 10 0 0 0 14
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
OMIM 11 0 0 0 0 0 11
Center for Human Genetics,University of Leuven 0 1 9 0 0 0 10
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 5 1 3 0 9
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 1 0 7 0 1 0 9
Medical Research Institute,Tokyo Medical and Dental University 0 0 9 0 0 0 9
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 7 0 0 0 7
Mendelics 0 0 3 1 2 0 6
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 1 4 0 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 3 1 1 0 5
GeneReviews 4 0 0 0 0 0 4
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 4 0 0 0 4
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 3 0 0 0 3
Developmental Genetics Unit,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
Lineagen, Inc 0 0 2 0 0 0 2
ISCA site 1 0 0 2 0 0 0 2
Dr. Guy Rouleau's laboratory,McGill University 0 2 0 0 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 2 0 0 0 2
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia 0 0 2 0 0 0 2
Phosphorus, Inc. 0 0 2 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
ISCA site 6 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
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
Clinical Genetics, Erasmus University Medical Center 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 North-West Medical Research Centre 1 0 0 0 0 0 1
Institute of Human Genetics,University of Wuerzburg 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 1
Klaassen Lab,Charite University Medicine Berlin 0 0 1 0 0 0 1

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