ClinVar Miner

Variants in gene RBM20

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Gene type:
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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
13 15 385 258 68 630

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 10 8 88 128 44 259
Dilated cardiomyopathy 1DD 7 4 190 41 12 245
not specified 0 0 68 114 38 200
Dilated Cardiomyopathy, Dominant 0 0 81 23 0 104
Cardiovascular phenotype 1 0 32 20 18 71
Cardiomyopathy 1 1 19 11 13 44
Primary dilated cardiomyopathy 5 5 10 1 0 20
Primary familial hypertrophic cardiomyopathy 0 0 6 1 0 7
Familial dilated cardiomyopathy 0 1 5 0 0 6
Hypertrophic cardiomyopathy 0 0 3 1 1 5
Arrhythmogenic right ventricular cardiomyopathy 0 0 3 0 0 3
Dilated cardiomyopathy 0 0 0 3 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; Dilated cardiomyopathy 0 0 0 1 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
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: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 5 1 179 134 21 340
GeneDx 10 5 55 76 61 207
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 3 3 62 54 21 143
Illumina Clinical Services Laboratory,Illumina 0 0 82 23 0 105
Ambry Genetics 1 0 32 20 18 71
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 1 15 10 12 38
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 1 5 20 5 31
Blueprint Genetics 2 1 20 1 1 25
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 18 4 0 22
Stanford Center for Inherited Cardiovascular Disease,Stanford University 1 1 16 0 0 18
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 3 8 4 2 17
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 2 5 11
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
Mendelics 0 0 1 1 2 4
CSER _CC_NCGL, University of Washington 0 0 2 2 0 4
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 2 0 1 3
Division of Human Genetics,Children's Hospital of Philadelphia 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
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 1
Lineagen, Inc 0 0 1 0 0 1
Mayo Clinic Genetic Testing 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 Russian Research Center of Surgery, The Federal Agency for Scientific Organizations 0 0 1 0 0 1
Snyder Lab, Genetics Department,Stanford University 0 1 0 0 0 1
Klaassen Lab,Charite University Medicine Berlin 0 0 1 0 0 1

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