ClinVar Miner

Variants in gene MYBPC3

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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
740 464 1760 1129 244 1 15 3675

Condition and significance breakdown #

Total conditions: 60
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Hypertrophic cardiomyopathy 560 140 1134 798 66 0 3 2651
Cardiomyopathy 130 93 692 468 51 0 0 1370
not provided 261 165 455 180 119 0 4 1085
Cardiovascular phenotype 190 40 428 262 24 0 0 943
not specified 2 2 276 214 117 0 0 543
Hypertrophic cardiomyopathy 4 118 97 141 38 41 0 2 378
Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 30 11 120 18 3 0 1 183
Primary familial hypertrophic cardiomyopathy 51 45 55 10 3 0 0 161
Left ventricular noncompaction 10 22 15 63 19 46 0 0 159
MYBPC3-related condition 10 2 17 46 2 0 0 77
Hypertrophic cardiomyopathy 1 12 4 13 1 0 0 0 30
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
MYBPC3-Related Disorders 6 1 1 0 0 0 2 10
Inborn genetic diseases 1 1 7 0 0 0 0 9
Primary familial dilated cardiomyopathy 1 1 4 0 2 0 0 8
Long QT syndrome 0 1 4 1 1 0 0 7
See cases 2 0 4 0 0 0 0 6
Dilated cardiomyopathy 1A 0 0 4 0 1 0 0 5
Cardiomyopathy, dilated, 1MM 4 0 0 0 0 0 0 4
Conduction disorder of the heart 1 0 2 0 0 0 0 3
Left ventricular noncompaction 1 1 0 1 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
Arrhythmogenic right ventricular dysplasia 1 0 0 1 1 0 0 0 2
Asymmetric septal hypertrophy 0 2 0 0 0 0 0 2
Brugada syndrome 0 0 2 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; Hypertrophic cardiomyopathy 1 0 1 0 0 0 0 2
Long QT syndrome; Hypertrophic cardiomyopathy 1 0 0 1 0 0 0 2
MYBPC3-related disorder 2 0 0 0 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
Aganglionic megacolon 0 0 1 0 0 0 0 1
Arrhythmogenic right ventricular cardiomyopathy 1 0 0 0 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
Familial amyloid neuropathy 0 0 0 0 1 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
Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 1 0 0 0 0 0 0 1 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
MYBPC3-related disease 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
Wolff-Parkinson-White pattern; Hypertrophic cardiomyopathy 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 133
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 510 93 1102 791 65 0 0 2561
Color Diagnostics, LLC DBA Color Health 60 17 577 435 33 0 0 1122
GeneDx 233 87 360 191 159 0 2 1032
Ambry Genetics 190 40 434 262 24 0 0 950
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 170 28 224 119 22 0 0 563
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 79 73 199 76 24 0 0 451
Fulgent Genetics, Fulgent Genetics 28 8 116 18 3 0 0 173
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 46 9 41 37 17 0 0 150
Blueprint Genetics 46 51 46 7 0 0 0 150
Illumina Laboratory Services, Illumina 9 3 102 34 42 0 0 145
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 28 18 43 19 11 0 0 119
Stanford Center for Inherited Cardiovascular Disease, Stanford University 13 37 58 7 1 0 0 116
PreventionGenetics, part of Exact Sciences 10 2 17 51 19 0 0 99
Genome Diagnostics Laboratory, University Medical Center Utrecht 24 3 17 33 22 0 0 98
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 23 2 23 25 15 0 0 88
CeGaT Center for Human Genetics Tuebingen 20 9 18 31 1 0 0 79
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 30 11 28 1 2 0 0 72
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 6 3 11 16 19 0 0 55
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
3billion 25 19 4 0 0 0 0 48
Mendelics 2 0 29 2 13 0 0 46
Mayo Clinic Laboratories, Mayo Clinic 16 7 23 0 0 0 0 46
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 14 4 6 0 0 0 0 24
Institute of Human Genetics, University of Leipzig Medical Center 12 3 8 0 0 0 0 23
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
Center of Genomic medicine, Geneva, University Hospital of Geneva 15 1 0 0 0 0 0 16
Centre for Mendelian Genomics, University Medical Centre Ljubljana 6 1 8 0 0 0 0 15
Genetics and Molecular Pathology, SA Pathology 10 2 2 0 0 0 0 14
Genetics and Genomics Program, Sidra Medicine 2 2 6 3 0 0 0 13
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 10 2 0 0 0 0 0 12
Athena Diagnostics Inc 0 1 5 1 4 0 0 11
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 9 2 0 0 0 0 0 11
Clinical Genetics Laboratory, Region Ostergotland 7 4 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
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
Institute of Human Genetics, University of Wuerzburg 1 5 3 0 0 0 0 9
Phosphorus, Inc. 2 1 4 2 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
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 6 1 0 0 0 0 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 1 0 0 0 0 0 6
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 2 0 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
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 5 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 4 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
KardioGenetik, Herz- und Diabeteszentrum NRW 2 2 1 0 0 0 0 5
Centogene AG - the Rare Disease Company 2 1 1 0 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 2 0 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
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
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
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 2 0 0 0 0 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 3 0 0 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 1 0 0 0 0 3
Gharavi Laboratory, Columbia University 3 0 0 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
Clinical Genomics Program, Stanford Medicine 1 2 0 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
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 2 0 0 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
Department of Pathology and Laboratory Medicine, Sinai Health System 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
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 1 1 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
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 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
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 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
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 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
Molecular Genetics, Royal Melbourne Hospital 0 0 1 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

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