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
12 15 341 189 42 514

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Dilated cardiomyopathy 1DD 7 4 158 80 24 260
not specified 0 0 67 112 38 196
Dilated Cardiomyopathy, Dominant 0 0 81 23 0 104
not provided 10 8 68 3 2 90
Cardiovascular phenotype 1 0 33 21 16 71
Cardiomyopathy 0 1 17 10 12 40
Primary dilated cardiomyopathy 4 5 8 1 0 17
Primary familial hypertrophic cardiomyopathy 0 0 6 1 0 7
Familial dilated cardiomyopathy 0 1 3 0 0 4
Arrhythmogenic right ventricular cardiomyopathy 0 0 2 0 0 2
Dilated cardiomyopathy 1S 1 1 0 0 0 2
Paroxysmal familial ventricular fibrillation 1 0 0 2 0 0 2
Dilated 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: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 5 1 151 65 20 242
GeneDx 10 5 55 65 37 172
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 3 61 51 21 139
Illumina Clinical Services Laboratory,Illumina 0 0 82 23 0 105
Ambry Genetics 1 0 33 21 16 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 16 1 1 21
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
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 3 5 4 2 14
PreventionGenetics 0 0 0 2 9 11
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 4 2 2 8
Fulgent Genetics 2 0 5 0 0 7
OMIM 6 0 0 0 0 6
CSER_CC_NCGL; University of Washington Medical Center 0 0 2 2 0 4
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
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
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 1
Snyder Lab, Genetics Department,Stanford University 0 1 0 0 0 1

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