ClinVar Miner

Variants in gene RYR2

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
45 104 1051 602 211 3 1732

Condition and significance breakdown #

Total conditions: 39
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Catecholaminergic polymorphic ventricular tachycardia 12 19 520 269 93 0 839
not specified 0 0 175 306 175 2 609
not provided 27 63 314 15 21 0 428
Cardiomyopathy 0 2 132 106 90 0 315
Cardiovascular phenotype 4 6 100 85 40 0 235
Arrhythmogenic right ventricular cardiomyopathy 0 0 149 73 1 0 222
Catecholaminergic polymorphic ventricular tachycardia type 1 12 14 18 4 2 1 49
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 17 0 0 0 17
Long QT syndrome 0 1 12 0 0 0 13
Arrhythmogenic right ventricular dysplasia, familial, 2 3 0 6 0 0 0 9
Hypertrophic cardiomyopathy 0 0 8 0 0 0 8
Primary dilated cardiomyopathy 0 0 8 0 0 0 8
Wolff-Parkinson-White pattern 0 0 7 0 0 0 7
Cardiac arrhythmia 0 2 1 1 2 0 6
Inborn genetic diseases 0 1 4 1 0 0 6
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
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
Conduction disorder of the heart 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
Familial dilated cardiomyopathy 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
Sudden death 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: 51
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 11 15 388 197 93 0 704
GeneDx 27 56 240 192 96 0 611
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 4 127 116 78 2 329
Color 0 0 93 88 78 0 259
Ambry Genetics 3 7 102 86 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 32 12 46 0 94
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 1 41 21 30 0 93
PreventionGenetics 0 0 0 17 50 0 67
Blueprint Genetics, 1 12 41 0 0 0 54
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 4 33 1 1 0 39
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 22 9 7 0 38
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 1 13 1 1 0 16
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 11 1 3 0 15
Fulgent Genetics 1 0 13 0 0 0 14
CSER_CC_NCGL; University of Washington Medical Center 0 0 11 1 0 0 12
OMIM 11 0 0 0 0 0 11
Center for Human Genetics,University of Leuven 0 1 9 0 0 0 10
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 2 8 0 0 0 10
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 5 1 3 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
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
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
Quest Diagnostics Nichols Institute San Juan Capistrano 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
CeGaT Praxis fuer Humangenetik Tuebingen 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
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 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
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
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.