ClinVar Miner

Variants in gene RBM20

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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 total
16 20 627 287 82 894

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Dilated cardiomyopathy 1DD 9 6 516 172 37 684
not specified 0 0 69 121 44 211
not provided 11 8 92 56 24 185
Cardiovascular phenotype 1 0 30 22 18 71
Cardiomyopathy 1 1 24 15 21 60
Primary dilated cardiomyopathy 6 7 19 5 0 35
Primary familial hypertrophic cardiomyopathy 0 0 6 1 0 7
Dilated Cardiomyopathy, Dominant 0 0 6 0 0 6
Hypertrophic cardiomyopathy 0 0 4 1 1 6
Primary familial dilated cardiomyopathy 0 1 5 0 0 6
Dilated cardiomyopathy 1A 1 0 4 0 0 5
Arrhythmogenic right ventricular cardiomyopathy 0 0 3 0 0 3
Dilated cardiomyopathy 1S 1 1 0 0 0 2
Paroxysmal familial ventricular fibrillation 1 0 0 2 0 0 2
Arrhythmogenic right ventricular cardiomyopathy; Long QT syndrome 0 0 0 0 1 1
Cardiomyopathy, left ventricular noncompaction 0 0 1 0 0 1
Conduction disorder of the heart 0 0 1 0 0 1
Familial dilated cardiomyopathy and peripheral neuropathy 0 0 0 0 1 1
Heart failure 0 0 0 1 0 1
Hypertrophic cardiomyopathy; Cardiac arrest 0 0 0 0 1 1
Long QT syndrome 0 0 0 0 1 1
Primary dilated cardiomyopathy; Cardiomyopathy 0 0 0 1 0 1
Pulmonary valve stenosis (rare); Ventricular tachycardia 0 0 1 0 0 1
Wolff-Parkinson-White pattern 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 7 0 397 168 22 594
GeneDx 10 5 55 76 61 207
Illumina Clinical Services Laboratory,Illumina 0 0 135 16 12 163
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 3 59 57 22 144
Ambry Genetics 1 0 30 22 18 71
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 1 22 14 21 58
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1 5 20 5 31
Integrated Genetics/Laboratory Corporation of America 0 0 5 5 19 29
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 1 3 14 8 3 29
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 24 4 0 28
Blueprint Genetics 2 1 20 1 1 25
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 7 6 7 20
Stanford Center for Inherited Cardiovascular Disease,Stanford University 1 1 16 0 0 18
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 9 1 6 16
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 1 0 4 6 5 16
PreventionGenetics, PreventionGenetics 0 0 0 2 9 11
Fulgent Genetics,Fulgent Genetics 2 0 5 0 0 7
OMIM 6 0 0 0 0 6
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 1 3 0 1 5
Genetics and Genomics Program,Sidra Medicine 0 0 4 1 0 5
Mendelics 0 0 1 1 2 4
CSER _CC_NCGL, University of Washington 0 0 2 2 0 4
Loeys Lab,Universiteit Antwerpen 1 0 2 0 0 3
Heart Failure and Familial Heart Diseases Unit,Hospital Universitario Virgen de la Victoria 0 1 2 0 0 3
Baylor Genetics 0 2 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 2 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 0 2 0 0 2
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 2 0 0 2
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia 1 1 0 0 0 2
Institute of Human Genetics,University of Wuerzburg 1 0 1 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 1 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 1 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 1
Clinical Genetics laboratory, University of Goettingen 0 1 0 0 0 1
Lineagen, Inc 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Center for Medical Genetics Ghent,University of Ghent 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 1 0 0 1
Center for Human Genetics,University of Leuven 1 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Snyder Lab, Genetics Department,Stanford University 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1
Klaassen Lab,Charite University Medicine Berlin 0 0 1 0 0 1

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