ClinVar Miner

Variants in gene MYBPC3

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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 risk factor not provided total
842 520 2121 1318 248 1 15 4287

Condition and significance breakdown #

Total conditions: 57
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Hypertrophic cardiomyopathy 626 169 1541 1009 70 0 3 3284
Cardiomyopathy 134 94 692 468 51 0 0 1374
Cardiovascular phenotype 260 61 613 360 26 0 0 1308
not provided 272 180 526 201 124 0 4 1192
not specified 1 2 253 231 120 0 0 537
Hypertrophic cardiomyopathy 4 171 131 191 39 41 0 2 500
Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 33 21 137 19 3 0 1 213
Left ventricular noncompaction 10 24 16 67 20 46 0 0 167
Primary familial hypertrophic cardiomyopathy 51 43 49 10 3 0 0 153
MYBPC3-related disorder 23 10 31 54 2 0 2 121
Hypertrophic cardiomyopathy 1 11 3 13 1 0 0 0 28
Left ventricular noncompaction cardiomyopathy 1 2 22 3 0 0 0 28
Dilated Cardiomyopathy, Dominant 0 0 22 2 0 0 0 24
Primary dilated cardiomyopathy 2 3 12 3 2 0 0 22
Long QT syndrome 0 1 4 1 1 0 0 7
See cases 2 0 4 0 0 0 0 6
Cardiomyopathy, dilated, 1MM 4 0 0 0 0 0 0 4
Dilated cardiomyopathy 1A 0 0 3 0 1 0 0 4
Primary familial dilated cardiomyopathy 0 1 3 0 0 0 0 4
Brugada syndrome 0 1 2 0 0 0 0 3
Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 1 0 0 0 0 0 0 3 3
Wolff-Parkinson-White pattern 0 0 3 0 0 0 0 3
Asymmetric septal hypertrophy 0 2 0 0 0 0 0 2
Catecholaminergic polymorphic ventricular tachycardia 1 0 0 2 0 0 0 0 2
Left ventricular hypertrophy 2 0 0 0 0 0 0 2
Left ventricular noncompaction 1 0 1 0 0 0 0 2
Left ventricular noncompaction; Hypertrophic cardiomyopathy 1 0 1 0 0 0 0 2
Long QT syndrome; Hypertrophic cardiomyopathy 1 0 0 1 0 0 0 2
Paroxysmal atrial fibrillation 0 0 1 1 0 0 0 2
Primary dilated cardiomyopathy; Left ventricular noncompaction cardiomyopathy 0 1 1 0 0 0 0 2
SUDDEN INFANT DEATH SYNDROME 1 0 1 0 0 0 0 2
Abnormality of the cardiovascular system 0 0 1 0 0 0 0 1
Amyloidosis, hereditary systemic 1 0 0 0 0 1 0 0 1
Arrhythmogenic right ventricular cardiomyopathy 1 0 0 0 0 0 0 1
Arrhythmogenic right ventricular dysplasia 1 0 0 0 1 0 0 0 1
Cardiac arrest 0 0 0 1 0 0 0 1
Cardiomyopathy, familial hypertrophic, 4, susceptibility to 0 0 0 0 0 1 0 1
Cardiomyopathy; Long QT syndrome 0 0 0 1 0 0 0 1
Catecholaminergic polymorphic ventricular tachycardia 0 0 1 0 0 0 0 1
Concentric hypertrophic cardiomyopathy; Left ventricular noncompaction cardiomyopathy 0 0 1 0 0 0 0 1
Dilated cardiomyopathy 1A; Hypertrophic cardiomyopathy 4 0 1 0 0 0 0 0 1
Dilated cardiomyopathy 1I 1 0 0 0 0 0 0 1
Heart block; Hypertrophic cardiomyopathy; Tachycardia; Asymmetric septal hypertrophy; Dyspnea; Premature ventricular contraction; Noncompaction cardiomyopathy 1 0 0 0 0 0 0 1
Hirschsprung disease 0 0 1 0 0 0 0 1
Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 1 0 0 0 0 0 0 1 1
Inborn genetic diseases 0 1 0 0 0 0 0 1
Intellectual disability 1 0 0 0 0 0 0 1
Isolated Noncompaction of the Ventricular Myocardium 1 0 0 0 0 0 0 1
MYBPC3-related cardiomyopathies 0 1 0 0 0 0 0 1
Peripheral neuropathy 0 0 1 0 0 0 0 1
Primary dilated cardiomyopathy; Cardiomyopathy 0 0 0 0 1 0 0 1
Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy 1 0 0 0 0 0 0 1
Primary dilated cardiomyopathy; Premature ventricular contraction 0 0 0 1 0 0 0 1
Primary dilated cardiomyopathy; Primary familial hypertrophic cardiomyopathy 0 1 0 0 0 0 0 1
Prolonged QT interval 0 0 1 0 0 0 0 1
Sudden unexplained death 0 0 1 0 0 0 0 1
hyprtrophic cardiomyopathy 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 147
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 569 105 1220 912 67 0 0 2873
Ambry Genetics 251 57 604 360 26 0 0 1298
All of Us Research Program, National Institutes of Health 69 21 723 352 18 0 0 1183
Color Diagnostics, LLC DBA Color Health 60 17 577 435 33 0 0 1122
GeneDx 241 98 411 192 159 0 2 1103
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 180 41 223 118 24 0 0 586
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 79 74 198 76 24 0 0 451
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 51 10 53 61 22 0 0 197
Fulgent Genetics, Fulgent Genetics 30 13 121 18 3 0 0 185
Blueprint Genetics 46 51 46 7 0 0 0 150
Illumina Laboratory Services, Illumina 9 3 102 34 42 0 0 145
PreventionGenetics, part of Exact Sciences 20 8 30 59 19 0 0 136
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 33 9 22 38 33 0 0 135
Clinical Genetics, Academic Medical Center 33 1 40 6 54 0 0 134
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 37 3 25 26 39 0 0 130
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 32 16 37 24 10 0 0 119
Stanford Center for Inherited Cardiovascular Disease, Stanford University 13 37 58 7 1 0 0 116
Genome Diagnostics Laboratory, University Medical Center Utrecht 24 3 17 33 22 0 0 98
CeGaT Center for Human Genetics Tuebingen 23 11 19 43 2 0 0 98
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 52 12 28 1 0 0 0 93
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 23 2 23 25 15 0 0 88
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 9 3 22 21 21 0 0 76
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 30 11 28 1 2 0 0 72
3billion 35 20 13 0 0 0 0 68
Mayo Clinic Laboratories, Mayo Clinic 23 9 32 0 0 0 0 64
Breakthrough Genomics, Breakthrough Genomics 1 0 3 28 27 0 0 59
Clinical Genetics Laboratory, Skane University Hospital Lund 24 9 20 0 0 0 0 53
Center for Human Genetics, University of Leuven 21 13 17 0 0 0 0 51
CSER _CC_NCGL, University of Washington 3 5 36 5 0 0 0 49
Mendelics 1 0 29 3 13 0 0 46
Zaffran Lab, Genetics of Cardiac Diseases Laboratory, Marseille Medical Genetics 14 7 12 1 5 0 0 39
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 2 0 19 7 10 0 0 38
AiLife Diagnostics, AiLife Diagnostics 11 5 20 0 0 0 0 36
Revvity Omics, Revvity 11 6 16 0 0 0 0 33
Eurofins Ntd Llc (ga) 5 1 16 1 8 0 0 31
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 29 1 1 0 0 0 31
OMIM 29 0 0 0 0 1 0 30
Baylor Genetics 16 5 6 0 0 0 0 27
Institute of Human Genetics, University of Leipzig Medical Center 15 4 8 0 0 0 0 27
Juno Genomics, Hangzhou Juno Genomics, Inc 8 12 5 0 0 0 0 25
Cohesion Phenomics 0 0 0 4 18 0 0 22
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 5 1 3 8 3 0 0 20
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 6 9 0 0 0 0 18
Molecular Genetics, Royal Melbourne Hospital 7 4 7 0 0 0 0 18
Center of Genomic medicine, Geneva, University Hospital of Geneva 15 1 0 0 0 0 0 16
Department of Pathology and Laboratory Medicine, Sinai Health System 1 2 12 1 0 0 0 16
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 12 3 0 0 0 0 0 15
Centre for Mendelian Genomics, University Medical Centre Ljubljana 6 1 8 0 0 0 0 15
Athena Diagnostics 1 1 5 1 6 0 0 14
Genetics and Molecular Pathology, SA Pathology 10 2 2 0 0 0 0 14
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 11 2 0 0 0 0 0 13
Genetics and Genomics Program, Sidra Medicine 2 2 6 3 0 0 0 13
Institute of Human Genetics, University of Wuerzburg 3 5 3 0 0 0 0 11
Clinical Genetics Laboratory, Region Ostergotland 6 5 0 0 0 0 0 11
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 2 1 7 0 0 0 0 10
Neuberg Centre For Genomic Medicine, NCGM 0 4 6 0 0 0 0 10
MGZ Medical Genetics Center 4 4 1 0 0 0 0 9
Center for Medical Genetics Ghent, University of Ghent 5 4 0 0 0 0 0 9
Phosphorus, Inc. 2 1 4 2 0 0 0 9
Clinical Genomics Laboratory, Stanford Medicine 4 3 2 0 0 0 0 9
New York Genome Center 5 2 2 0 0 0 0 9
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 4 1 3 0 0 0 0 8
GenomeConnect, ClinGen 0 0 0 0 0 0 8 8
KardioGenetik, Herz- und Diabeteszentrum NRW 2 2 4 0 0 0 0 8
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 6 1 0 0 0 0 0 7
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 5 2 0 0 0 0 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 1 0 0 0 0 0 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 4 0 0 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 4 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 0 6
Clinical Genomics Laboratory, Washington University in St. Louis 3 0 2 0 0 0 0 5
deCODE genetics, Amgen 1 4 0 0 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 0 5
Loeys Lab, Universiteit Antwerpen 4 0 1 0 0 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 5 5
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 0 5
Centogene AG - the Rare Disease Company 2 1 1 0 0 0 0 4
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 2 2 0 0 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 2 0 0 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 1 2 0 0 0 0 4
Heart Center, Academic Medical Center Amsterdam 0 4 0 0 0 0 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 2 1 0 1 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 2 1 0 0 0 0 4
Klaassen Lab, Charite University Medicine Berlin 2 2 0 0 0 0 0 4
Dept of Medical Biology, Uskudar University 0 1 2 0 1 0 0 4
Institute of Immunology and Genetics Kaiserslautern 2 2 0 0 0 0 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 2 0 1 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 3 0 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 3 0 0 0 0 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 3 0 0 0 0 0 0 3
Gharavi Laboratory, Columbia University 3 0 0 0 0 0 0 3
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 2 1 1 0 0 0 0 3
Molecular Cardiogenetic Lab, Hospices Civils de Lyon 3 0 0 0 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 2 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 2 0 0 0 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 2 0 0 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 1 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 2 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 0 0 0 0 0 2
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 0 2 0 0 0 0 0 2
Institute of Human Genetics, Heidelberg University 2 0 0 0 0 0 0 2
Division of Medical Genetics, University of Washington 2 0 0 0 0 0 0 2
Robert's Program, Boston Children's Hospital 1 0 1 0 0 0 0 2
Molecular Genetics Laboratory, Motol Hospital 2 0 0 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 2 0 0 0 0 0 2
KTest Genetics, KTest 0 2 0 0 0 0 0 2
DASA 2 0 0 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 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 0 0 0 0 0 2
Arcensus 0 2 0 0 0 0 0 2
Claritas Genomics 0 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 0 1
Health in Code S.L. 0 1 0 0 0 0 0 1
Institute of Human Genetics, Medical University Innsbruck 0 1 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 0 0 0 0 0 1
Forensic Genetics Laboratory, Harris County Institute of Forensic Sciences 1 0 0 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
Bioinformatics dept., Datar Cancer Genetics Limited, India 0 1 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 0 1
Rampazzo Lab, Human Molecular Genetics Unit, University of Padua 1 0 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 0 1
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud 0 1 0 0 0 0 0 1
Cardiology unit, Meyer University Hospital 0 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 0 1
Center of Genetics and Reproductive Medicine "Genetico" 0 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 1 0 0 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 0 1 0 0 0 0 1
The Laboratory of Cardiovascular Diseases, The First Hospital of LanZhou University 0 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 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 0 1
Biotechnology Department, Cairo University 0 1 0 0 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 0 1 0 0 0 0 1
Lildballe Lab, Aarhus University Hospital 0 0 1 0 0 0 0 1
Medical Genome Center, National Cerebral and Cardiovascular Center 0 1 0 0 0 0 0 1

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