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
62 138 2255 1387 429 4 3820

Condition and significance breakdown #

Total conditions: 47
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Catecholaminergic polymorphic ventricular tachycardia 27 40 1172 499 99 0 1825
Cardiomyopathy 1 3 907 729 126 0 1724
not provided 27 64 354 310 196 0 929
not specified 0 0 213 341 198 2 687
Catecholaminergic polymorphic ventricular tachycardia type 1 13 26 178 56 92 2 361
Arrhythmogenic right ventricular dysplasia, familial, 2 5 4 209 50 33 0 298
Cardiovascular phenotype 5 5 93 92 40 0 235
Arrhythmogenic right ventricular cardiomyopathy 0 0 50 9 1 0 60
none provided 0 0 5 13 32 0 50
Hypertrophic cardiomyopathy 0 0 19 1 0 0 20
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
Long QT syndrome 0 1 12 0 0 0 13
Primary dilated cardiomyopathy 0 0 10 0 0 0 10
Cardiac arrhythmia 4 2 0 1 2 0 9
Conduction disorder of the heart 0 2 5 0 0 0 7
Wolff-Parkinson-White pattern 0 0 7 0 0 0 7
Inborn genetic diseases 1 0 5 0 0 0 6
Polymorphic ventricular tachycardia 0 0 4 0 0 0 4
See cases 0 0 4 0 0 0 4
Arrhythmogenic right ventricular dysplasia, familial 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
Paroxysmal familial ventricular fibrillation 1 0 2 0 0 0 0 2
Primary familial dilated cardiomyopathy 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
Arrhythmia 0 0 1 0 0 0 1
Arrhythmogenic right ventricular dysplasia 9 0 0 1 0 0 0 1
Brugada syndrome 0 0 1 0 0 0 1
Cardiomyopathy, left ventricular noncompaction 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
Familial hypertrophic cardiomyopathy 4 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; Cardiomyopathy, left ventricular noncompaction; Abnormality of the trabecular meshwork 0 0 1 0 0 0 1
Long QT syndrome 1 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
Ventricular tachycardia, catecholaminergic polymorphic, 2 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 65
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 25 33 1133 581 100 0 1872
Color Health, Inc 0 0 862 709 114 0 1685
GeneDx 27 56 240 289 271 0 883
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 4 123 122 79 2 332
Illumina Clinical Services Laboratory,Illumina 0 0 234 104 90 0 324
Ambry Genetics 5 5 96 92 40 0 238
Integrated Genetics/Laboratory Corporation of America 2 5 64 41 95 0 207
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 2 61 27 42 0 132
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 51 6 44 0 101
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 21 21 35 0 77
CeGaT Praxis fuer Humangenetik Tuebingen 1 3 42 25 0 0 71
PreventionGenetics, PreventionGenetics 0 0 0 17 50 0 67
Blueprint Genetics 1 12 41 0 0 0 54
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 2 29 4 12 0 47
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
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 2 12 15 0 0 0 29
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 1 1 11 0 2 0 15
OMIM 14 0 0 0 0 0 14
Fulgent Genetics,Fulgent Genetics 1 0 13 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
Center for Human Genetics,University of Leuven 0 1 9 0 0 0 10
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 8 0 0 0 10
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,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
Baylor Genetics 2 1 5 0 0 0 8
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 7 0 0 0 7
Mendelics 0 0 3 1 2 0 6
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 6 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 1 2 2 1 0 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
Genetics and Genomics Program,Sidra Medicine 0 0 5 0 0 0 5
GeneReviews 4 0 0 0 0 0 4
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 4 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
Broad Institute Rare Disease Group, Broad Institute 0 0 3 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 1 0 0 0 2
Phosphorus, Inc. 0 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
ISCA site 6 0 0 1 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 1 0 0 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
Institute of Human Genetics,University of Wuerzburg 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 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
New York Genome Center 0 0 1 0 0 0 1

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