ClinVar Miner

Variants in gene MYBPC3

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
912 574 2322 1497 250 23 4701

Condition and significance breakdown #

Total conditions: 70
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hypertrophic cardiomyopathy 679 172 1645 1108 71 3 3539
Cardiomyopathy 160 106 860 597 51 0 1703
Cardiovascular phenotype 297 95 752 424 26 0 1562
not provided 289 199 590 225 127 4 1303
not specified 1 2 276 270 123 0 584
Hypertrophic cardiomyopathy 4 199 151 209 39 41 2 556
Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 35 22 139 19 3 1 217
Left ventricular noncompaction 10 26 21 68 20 46 0 174
Primary familial hypertrophic cardiomyopathy 55 43 51 10 3 0 159
MYBPC3-related disorder 24 10 31 54 2 2 122
Hypertrophic cardiomyopathy 1 12 2 10 1 0 0 25
Primary dilated cardiomyopathy 2 3 13 3 2 0 23
Long QT syndrome 0 1 4 1 1 0 7
See cases 2 0 4 0 0 0 6
Cardiomyopathy, dilated, 1MM 4 0 0 0 0 0 4
MYBPC3-related cardiomyopathies 3 1 0 0 0 0 4
Brugada syndrome 0 1 2 0 0 0 3
Dilated cardiomyopathy 1A 0 0 2 0 1 0 3
Left ventricular noncompaction cardiomyopathy 1 2 0 0 0 0 3
Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 1 0 0 0 0 0 3 3
Wolff-Parkinson-White pattern 0 0 3 0 0 0 3
Asymmetric septal hypertrophy 0 2 0 0 0 0 2
Autosomal dominant MYBPC3-related disorders 2 0 0 0 0 0 2
Catecholaminergic polymorphic ventricular tachycardia 1 0 0 2 0 0 0 2
Heart failure 1 0 1 0 0 0 2
Left ventricular hypertrophy 2 0 0 0 0 0 2
Left ventricular noncompaction 1 0 1 0 0 0 2
Left ventricular noncompaction; Hypertrophic cardiomyopathy 1 0 1 0 0 0 2
Long QT syndrome; Hypertrophic cardiomyopathy 1 0 0 1 0 0 2
Mitochondrial disease 2 0 0 0 0 0 2
Paroxysmal atrial fibrillation 0 0 1 1 0 0 2
Primary dilated cardiomyopathy; Left ventricular noncompaction cardiomyopathy 0 1 1 0 0 0 2
Primary familial dilated cardiomyopathy 0 0 2 0 0 0 2
SUDDEN INFANT DEATH SYNDROME 1 0 1 0 0 0 2
Uterine carcinosarcoma 0 0 0 0 0 2 2
Abnormality of the cardiovascular system 0 0 1 0 0 0 1
Acute myeloid leukemia 0 0 0 0 0 1 1
Aganglionic megacolon 0 0 1 0 0 0 1
Amyloidosis, hereditary systemic 1 0 0 0 0 1 0 1
Arrhythmogenic right ventricular cardiomyopathy 1 0 0 0 0 0 1
Arrhythmogenic right ventricular dysplasia 1 0 0 0 1 0 0 1
Cardiac arrest 0 0 0 1 0 0 1
Cardiomyopathy, familial hypertrophic, 4, susceptibility to 1 0 0 0 0 0 1
Cardiomyopathy; Long QT syndrome 0 0 0 1 0 0 1
Catecholaminergic polymorphic ventricular tachycardia 0 0 1 0 0 0 1
Colon adenocarcinoma 0 0 0 0 0 1 1
Concentric hypertrophic cardiomyopathy; Left ventricular noncompaction cardiomyopathy 0 0 1 0 0 0 1
Dilated cardiomyopathy 1A; Hypertrophic cardiomyopathy 4 0 1 0 0 0 0 1
Dilated cardiomyopathy 1I 1 0 0 0 0 0 1
Gastric cancer 0 0 0 0 0 1 1
Heart block; Hypertrophic cardiomyopathy; Tachycardia; Asymmetric septal hypertrophy; Dyspnea; Premature ventricular contraction; Noncompaction cardiomyopathy 1 0 0 0 0 0 1
Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 1 0 0 0 0 0 1 1
Inborn genetic diseases 0 1 0 0 0 0 1
Intellectual disability 1 0 0 0 0 0 1
Isolated Noncompaction of the Ventricular Myocardium 1 0 0 0 0 0 1
Lung cancer 0 0 0 0 0 1 1
Malignant tumor of esophagus 0 0 0 0 0 1 1
Melanoma 0 0 0 0 0 1 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Peripheral neuropathy 0 0 1 0 0 0 1
Primary dilated cardiomyopathy; Cardiomyopathy 0 0 0 0 1 0 1
Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy 1 0 0 0 0 0 1
Primary dilated cardiomyopathy; Premature ventricular contraction 0 0 0 1 0 0 1
Primary dilated cardiomyopathy; Primary familial hypertrophic cardiomyopathy 0 1 0 0 0 0 1
Prolonged QT interval 0 0 1 0 0 0 1
Sarcoma 0 0 0 0 0 1 1
Sudden unexplained death 0 0 1 0 0 0 1
Sudden unexplained death or survivors of a cardiac event 1 0 0 0 0 0 1
hypertrophic cardiomyopathie 1 0 0 0 0 0 1
hyprtrophic cardiomyopathy 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 166
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 626 107 1357 1019 67 0 3176
Ambry Genetics 273 65 710 424 26 0 1498
Color Diagnostics, LLC DBA Color Health 93 31 752 574 33 0 1483
All of Us Research Program, National Institutes of Health 69 21 723 352 18 0 1183
GeneDx 244 111 469 192 159 2 1177
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 180 41 223 118 24 0 586
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 79 74 198 76 24 0 451
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 58 42 102 78 17 0 296
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 62 14 81 82 27 0 266
Fulgent Genetics, Fulgent Genetics 30 13 121 18 3 0 185
Blueprint Genetics 46 51 46 7 0 0 150
PreventionGenetics, part of Exact Sciences 20 8 30 59 19 0 136
CeGaT Center for Human Genetics Tuebingen 30 14 28 61 2 0 135
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 33 9 22 38 33 0 135
Clinical Genetics, Academic Medical Center 33 1 40 6 54 0 134
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 37 3 25 26 39 0 130
Mayo Clinic Laboratories, Mayo Clinic 30 14 38 25 23 0 130
Illumina Laboratory Services, Illumina 10 4 81 31 42 0 123
Stanford Center for Inherited Cardiovascular Disease, Stanford University 13 37 58 7 1 0 116
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 56 12 33 1 0 0 102
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 13 4 26 31 25 0 99
Genome Diagnostics Laboratory, University Medical Center Utrecht 24 3 17 33 22 0 98
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 23 2 23 25 15 0 88
3billion 47 18 20 0 0 0 85
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 30 11 28 1 2 0 72
Clinical Genetics Laboratory, Skane University Hospital Lund 28 11 24 0 0 0 63
Breakthrough Genomics, Breakthrough Genomics 1 0 3 28 27 0 59
Center for Human Genetics, University of Leuven 21 13 17 0 0 0 51
CSER _CC_NCGL, University of Washington 3 5 36 5 0 0 49
Mendelics 3 0 28 3 13 0 47
Revvity Omics, Revvity 12 8 24 0 0 0 44
Zaffran Lab, Genetics of Cardiac Diseases Laboratory, Marseille Medical Genetics 14 7 12 1 5 0 39
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 2 0 19 7 10 0 38
AiLife Diagnostics, AiLife Diagnostics 11 5 20 0 0 0 36
Institute of Human Genetics, University of Leipzig Medical Center 21 6 9 0 0 0 35
Eurofins Ntd Llc (ga) 5 1 16 1 8 0 31
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 29 1 1 0 0 31
OMIM 30 0 0 0 0 0 30
Juno Genomics, Hangzhou Juno Genomics, Inc 9 14 5 0 0 0 28
Baylor Genetics 16 5 6 0 0 0 27
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 8 12 2 0 0 25
Cohesion Phenomics 0 0 0 4 18 0 22
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 5 1 3 8 3 0 20
Dasa 17 0 1 0 0 0 18
Institute of Immunology and Genetics Kaiserslautern 11 5 2 0 0 0 18
Molecular Genetics, Royal Melbourne Hospital 7 4 7 0 0 0 18
Center of Genomic medicine, Geneva, University Hospital of Geneva 15 1 0 0 0 0 16
Department of Pathology and Laboratory Medicine, Sinai Health System 1 2 12 1 0 0 16
Variantyx, Inc. 13 3 0 0 0 0 16
Athena Diagnostics 1 1 5 1 7 0 15
Centre for Mendelian Genomics, University Medical Centre Ljubljana 6 1 8 0 0 0 15
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 12 3 0 0 0 0 15
Genetics and Molecular Pathology, SA Pathology 10 2 2 0 0 0 14
Clinical Genetics Laboratory, Region Ostergotland 7 6 0 0 0 0 13
Clinical Genomics Laboratory, Stanford Medicine 6 5 2 0 0 0 13
Genetics and Genomics Program, Sidra Medicine 2 2 6 3 0 0 13
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 11 2 0 0 0 0 13
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 3 1 9 0 0 0 13
Institute of Human Genetics Munich, TUM University Hospital 9 3 0 0 0 0 12
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 5 2 4 0 0 0 11
Institute of Human Genetics, University of Wuerzburg 3 5 3 0 0 0 11
Neuberg Centre For Genomic Medicine, NCGM 1 4 6 0 0 0 11
ClinGen Cardiomyopathy Variant Curation Expert Panel 1 3 4 1 1 0 10
KardioGenetik, Herz- und Diabeteszentrum NRW 2 3 5 0 0 0 10
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 8 2 0 0 0 0 10
Center for Medical Genetics Ghent, University of Ghent 5 4 0 0 0 0 9
Clinical Genomics Laboratory, Washington University in St. Louis 3 0 6 0 0 0 9
MGZ Medical Genetics Center 4 4 1 0 0 0 9
New York Genome Center 5 2 2 0 0 0 9
Phosphorus, Inc. 2 1 4 2 0 0 9
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 8 8
GenomeConnect, ClinGen 0 0 0 0 0 8 8
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 3 1 2 1 0 0 7
Laboratory of Genetics, Children's Clinical University Hospital Latvia 3 2 0 1 1 0 7
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 3 4 0 0 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 4 0 0 0 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 4 0 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 6 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 1 0 0 0 0 6
ICMR Centre for Advanced Research and Excellence in Heart Failure, Sree Chitra Tirunal Institute for Medical Sciences & Technology, KERALA, INDIA 2 3 0 1 0 0 6
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University 1 1 3 0 0 0 5
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 4 0 1 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
Human Genetics Bochum, Ruhr University Bochum 3 2 0 0 0 0 5
Loeys Lab, Universiteit Antwerpen 4 0 1 0 0 0 5
MVZ Martinsried, Medicover Genetics 1 1 3 0 0 0 5
deCODE genetics, Amgen 1 4 0 0 0 0 5
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 2 0 0 0 0 4
CENTOGENE GmbH and LLC - Guiding Precision Medicine 2 1 1 0 0 0 4
Department of Human Genetics, Hannover Medical School 3 0 1 0 0 0 4
Dept of Medical Biology, Uskudar University 0 1 2 0 1 0 4
Heart Center, Academic Medical Center Amsterdam 0 4 0 0 0 0 4
Klaassen Lab, Charite University Medicine Berlin 2 2 0 0 0 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 2 1 0 1 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 2 1 0 0 0 4
Molecular Genetics Laboratory, Motol Hospital 4 0 0 0 0 0 4
OLLIN Analises Genomicas, OLLIN 3 1 0 0 0 0 4
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 2 0 0 0 3
Dubai Health Genomic Medicine Center, Dubai Health 2 1 1 0 0 0 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 3 0 0 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 2 0 1 0 3
Gharavi Laboratory, Columbia University 3 0 0 0 0 0 3
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 2 1 0 0 0 0 3
Institute of Human Genetics, Heidelberg University 2 1 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 3 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 2 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 3 0 0 0 3
Molecular Cardiogenetic Lab, Hospices Civils de Lyon 3 0 0 0 0 0 3
Arcensus 0 2 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 0 0 0 0 2
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 1 1 0 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 2 0 0 0 0 0 2
Division of Medical Genetics, University of Washington 2 0 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 2 0 0 0 0 2
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 1 1 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 1 0 0 0 2
KTest Genetics, KTest 0 2 0 0 0 0 2
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 0 2 0 0 0 0 2
MVZ Medizinische Genetik Mainz 0 1 1 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 2
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 1 1 0 0 0 0 2
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 0 2 0 0 0 2
Robert's Program, Boston Children's Hospital 1 0 1 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 2 0 0 0 2
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 1 1 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 1 0 0 0 0 1
Bioinformatics dept., Datar Cancer Genetics Limited, India 0 1 0 0 0 0 1
Biotechnology Department, Cairo University 0 1 0 0 0 0 1
Cardiogenetics and Sports Cardiology Unit, National And Kapodistrian University of Athens NKUA 1 0 0 0 0 0 1
Cardiology unit, Meyer University Hospital 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Center of Genetics and Reproductive Medicine "Genetico" 0 1 0 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Centro Nacional de Genética Medica, Administración Nacional de Laboratorios e Institutos de Salud (ANLIS) “Dr. Carlos G Malbrán” 0 1 0 0 0 0 1
Claritas Genomics 0 0 1 0 0 0 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 1 0 0 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 0 0 1 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 1
Forensic Genetics Laboratory, Harris County Institute of Forensic Sciences 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 1
Health in Code S.L. 0 1 0 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, Medical University Innsbruck 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 1 0 0 0 0 1
Laboratory of Functional Genomics of Cardiovascular Diseases, Federal State Budgetary Institution National Medical Research Centre of Cardiology Named after Academician E.i.chazov. of the Ministry of Health of the Russian Federation 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Lildballe Lab, Aarhus University Hospital 0 0 1 0 0 0 1
Medical Genetics Clinic, University of Catania 0 1 0 0 0 0 1
Medical Genome Center, National Cerebral and Cardiovascular Center 0 1 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 0 0 0 0 1
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 1 0 0 0 0 0 1
National Reference Unit of Familial Cardiopathies (CSUR), Reference Unit for Rare Diseases (DiERCyL), University Hospital of Salamanca 0 1 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 1
Rampazzo Lab, Human Molecular Genetics Unit, University of Padua 1 0 0 0 0 0 1
Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Synevo Romania 1 0 0 0 0 0 1
The Laboratory of Cardiovascular Diseases, The First Hospital of LanZhou University 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1

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