ClinVar Miner

Variants in gene RBM20

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
116 62 1422 1076 202 6 2389

Condition and significance breakdown #

Total conditions: 32
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Dilated cardiomyopathy 1DD 112 37 968 891 108 0 1953
Cardiovascular phenotype 7 8 576 346 26 0 958
not provided 10 13 298 166 59 0 515
not specified 0 1 96 178 76 0 295
Cardiomyopathy 2 1 57 29 28 0 115
Primary dilated cardiomyopathy 7 7 22 5 4 1 42
RBM20-related disorder 2 0 16 12 2 0 32
Primary familial hypertrophic cardiomyopathy 0 0 7 1 0 0 8
Primary familial dilated cardiomyopathy 3 2 3 0 0 0 7
Hypertrophic cardiomyopathy 0 0 4 1 1 0 6
Long QT syndrome 0 0 3 0 1 0 4
Arrhythmogenic right ventricular cardiomyopathy 0 0 3 0 0 0 3
Dilated cardiomyopathy 1A 1 0 2 0 0 0 3
Dilated cardiomyopathy 1S 1 1 0 0 0 0 2
Left ventricular noncompaction cardiomyopathy 1 0 1 0 0 0 2
Ventricular fibrillation, paroxysmal familial, type 1 0 0 2 0 0 0 2
Arrhythmogenic right ventricular cardiomyopathy; Long QT syndrome 0 0 0 0 1 0 1
Cervical cancer 0 0 0 0 0 1 1
Conduction disorder of the heart 0 0 1 0 0 0 1
Familial cancer of breast 0 0 0 0 0 1 1
Familial dilated cardiomyopathy and peripheral neuropathy 0 0 0 0 1 0 1
Heart failure 0 0 0 1 0 0 1
Hypertrophic cardiomyopathy; Cardiac arrest; Sudden unexpected death in epilepsy 0 0 0 0 1 0 1
Malignant tumor of esophagus 0 0 0 0 0 1 1
Ovarian serous cystadenocarcinoma 0 0 0 0 0 1 1
Primary dilated cardiomyopathy; Cardiomyopathy 0 0 0 1 0 0 1
Pulmonary valve stenosis (rare); Ventricular tachycardia 0 0 1 0 0 0 1
Sarcoma 0 0 0 0 0 1 1
See cases 0 0 1 0 0 0 1
Thymoma 0 0 0 0 0 1 1
Uterine carcinosarcoma 0 0 0 0 0 1 1
Wolff-Parkinson-White pattern 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 92
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 109 21 754 869 95 0 1848
Ambry Genetics 6 4 566 346 26 0 948
GeneDx 9 5 232 116 79 0 441
Illumina Laboratory Services, Illumina 0 0 128 16 12 0 156
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 4 58 58 22 0 144
Fulgent Genetics, Fulgent Genetics 2 0 110 8 0 0 120
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 1 30 51 31 0 116
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 1 1 54 28 28 0 112
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 2 5 35 49 13 0 104
Clinical Genetics, Academic Medical Center 2 0 14 7 52 0 75
CeGaT Center for Human Genetics Tuebingen 1 0 11 47 7 0 66
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 8 35 20 0 63
Breakthrough Genomics, Breakthrough Genomics 0 0 11 16 27 0 54
Mayo Clinic Laboratories, Mayo Clinic 1 3 24 13 13 0 54
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 1 7 25 15 0 50
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 17 17 13 0 48
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 1 7 30 5 0 45
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 1 11 19 11 0 43
PreventionGenetics, part of Exact Sciences 2 0 16 14 11 0 43
Blueprint Genetics 2 1 20 1 1 0 25
Stanford Center for Inherited Cardiovascular Disease, Stanford University 1 1 16 0 0 0 18
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 1 0 4 6 5 0 16
Eurofins Ntd Llc (ga) 0 0 9 1 6 0 16
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 3 9 1 0 0 15
Clinical Genomics Laboratory, Stanford Medicine 0 0 10 0 0 0 10
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 7 0 0 0 7
Revvity Omics, Revvity 1 0 6 0 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 6 0 0 0 6
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 0 0 2 3 0 6
OMIM 6 0 0 0 0 0 6
Phosphorus, Inc. 0 0 3 3 0 0 6
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 1 3 0 1 0 5
Clinical Genetics Laboratory, Skane University Hospital Lund 1 1 3 0 0 0 5
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 5 5
Genetics and Genomics Program, Sidra Medicine 0 0 4 1 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
AiLife Diagnostics, AiLife Diagnostics 1 1 2 0 0 0 4
CSER _CC_NCGL, University of Washington 0 0 2 2 0 0 4
Cohesion Phenomics 0 0 0 0 4 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 3 0 0 0 4
Mendelics 0 0 1 1 2 0 4
Molecular Genetics, Royal Melbourne Hospital 1 0 2 0 1 0 4
Baylor Genetics 1 2 0 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 2 0 0 0 3
Dasa 3 0 0 0 0 0 3
Dept of Medical Biology, Uskudar University 0 0 3 0 0 0 3
Heart Failure and Familial Heart Diseases Unit, Hospital Universitario Virgen de la Victoria 0 1 2 0 0 0 3
Institute of Human Genetics, University of Wuerzburg 1 0 2 0 0 0 3
Loeys Lab, Universiteit Antwerpen 1 0 2 0 0 0 3
MVZ Martinsried, Medicover Genetics 0 2 1 0 0 0 3
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 1 2 0 0 0 3
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 1 1 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen 1 1 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 0 2
Klaassen Lab, Charite University Medicine Berlin 1 0 1 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 0 2 0 0 0 2
3billion 1 0 0 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 0 0 0 0 0 1
Center for Human Genetics, University of Leuven 1 0 0 0 0 0 1
Center for Medical Genetics Ghent, University of Ghent 0 1 0 0 0 0 1
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 1 0 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Hadassah Hebrew University Medical Center 0 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
KTest Genetics, KTest 1 0 0 0 0 0 1
KardioGenetik, Herz- und Diabeteszentrum NRW 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 1 0 0 0 1
Lildballe Lab, Aarhus University Hospital 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 0 0 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 1 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 0 1
Snyder Lab, Genetics Department, Stanford University 0 1 0 0 0 0 1

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