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
504 333 1099 585 142 1 10 2221

Condition and significance breakdown #

Total conditions: 51
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Hypertrophic cardiomyopathy 360 103 626 214 47 0 3 1307
Cardiomyopathy 69 37 468 365 42 0 0 947
not provided 216 145 259 106 23 0 5 704
not specified 3 2 266 218 77 0 0 517
Familial hypertrophic cardiomyopathy 4 74 48 124 37 37 0 2 274
Cardiovascular phenotype 72 13 85 58 18 0 0 245
Primary familial hypertrophic cardiomyopathy 42 45 55 11 3 0 0 153
Left ventricular noncompaction 10 8 8 56 19 43 0 0 130
Familial hypertrophic cardiomyopathy 1 11 3 13 1 0 0 0 28
Cardiomyopathy, left ventricular noncompaction 0 1 23 3 0 0 0 27
Dilated Cardiomyopathy, Dominant 0 0 23 2 0 0 0 25
none provided 2 1 2 7 11 0 0 23
Primary dilated cardiomyopathy 2 3 8 3 2 0 0 18
Familial hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 10 3 4 0 0 0 0 17
Primary familial dilated cardiomyopathy 2 1 4 0 2 0 0 9
Inborn genetic diseases 1 1 4 0 0 0 0 6
Dilated cardiomyopathy 1A 0 0 4 0 1 0 0 5
MYBPC3-Related Disorders 3 1 1 0 0 0 0 5
See cases 1 0 3 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
Long QT syndrome 0 0 2 1 0 0 0 3
Wolff-Parkinson-White pattern 0 0 3 0 0 0 0 3
Arrhythmogenic right ventricular dysplasia, familial 1 0 0 1 1 0 0 0 2
Asymmetric septal hypertrophy 0 2 0 0 0 0 0 2
Catecholaminergic polymorphic ventricular tachycardia type 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
Paroxysmal atrial fibrillation 0 0 1 1 0 0 0 2
Primary dilated cardiomyopathy; Cardiomyopathy, left ventricular noncompaction 0 1 1 0 0 0 0 2
Amyloidogenic transthyretin amyloidosis 0 0 0 0 1 0 0 1
Brugada syndrome 0 0 1 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; Cardiomyopathy, left ventricular noncompaction 0 0 1 0 0 0 0 1
Dilated cardiomyopathy 1A; Familial hypertrophic cardiomyopathy 4 0 1 0 0 0 0 0 1
Heart block; Hypertrophic cardiomyopathy; Tachycardia; Asymmetric septal hypertrophy; Dyspnea; Ventricular extrasystoles; Noncompaction cardiomyopathy 1 0 0 0 0 0 0 1
Hirschsprung disease 0 0 1 0 0 0 0 1
Hypertrophic cardiomyopathy; Wolff-Parkinson-White syndrome 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
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

Submitter and significance breakdown #

Total submitters: 80
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 275 56 589 243 48 0 0 1211
Color Health, Inc 29 8 399 346 32 0 0 814
GeneDx 216 84 211 131 66 0 3 711
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 170 28 224 119 22 0 0 563
Ambry Genetics 72 13 89 58 18 0 0 250
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 32 27 100 34 13 0 0 206
Blueprint Genetics 46 54 46 7 0 0 0 150
Illumina Clinical Services Laboratory,Illumina 5 2 100 34 43 0 0 136
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
Integrated Genetics/Laboratory Corporation of America 30 5 26 20 14 0 0 95
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 30 11 28 1 2 0 0 72
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 21 0 9 8 24 0 0 62
CeGaT Praxis fuer Humangenetik Tuebingen 9 5 29 16 0 0 0 59
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 15 3 10 10 15 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
Genome Diagnostics Laboratory,University Medical Center Utrecht 14 1 4 9 18 0 0 46
Mendelics 0 0 31 2 11 0 0 44
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 2 0 19 7 10 0 0 38
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 5 2 7 11 13 0 0 38
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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
PreventionGenetics, PreventionGenetics 0 0 0 5 17 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 6 1 8 0 0 0 0 15
Fulgent Genetics,Fulgent Genetics 9 1 4 0 0 0 0 14
Center of Genomic medicine, Geneva,University Hospital of Geneva 12 1 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 Leipzig Medical Center 5 1 6 0 0 0 0 12
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 8 2 0 0 0 0 0 10
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 9 1 0 0 0 0 0 10
Athena Diagnostics Inc 0 1 3 1 4 0 0 9
Center for Medical Genetics Ghent,University of Ghent 5 4 0 0 0 0 0 9
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 1 6 0 0 0 0 8
GenomeConnect, ClinGen 0 0 0 0 0 0 7 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 1 0 0 0 0 0 6
Baylor Genetics 0 0 5 0 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 4 0 0 0 0 5
Phosphorus, Inc. 2 1 2 0 0 0 0 5
Loeys Lab,Universiteit Antwerpen 4 0 1 0 0 0 0 5
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
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
Institute of Human Genetics,University of Wuerzburg 1 2 0 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 1 0 0 0 0 0 3
Gharavi Laboratory,Columbia University 3 0 0 0 0 0 0 3
Klaassen Lab,Charite University Medicine Berlin 1 2 0 0 0 0 0 3
Molecular Cardiogenetic Lab,Hospices Civils de Lyon 3 0 0 0 0 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 2 0 0 0 0 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 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 Institute Rare Disease Group, Broad Institute 0 2 0 0 0 0 0 2
Division of Medical Genetics, University of Washington 2 0 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 0 1 0 0 0 0 1
Claritas Genomics 0 0 1 0 0 0 0 1
Clinical Genetics laboratory, University of Goettingen 0 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 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
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 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
Rampazzo Lab, Human Molecular Genetics Unit,University of Padua 1 0 0 0 0 0 0 1
RBHT Clinical Genetics and Genomics Laboratory,Royal Brompton and Harefield NHS Foundation Trust 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 1 0 0 0 0 0 1
Center of Genetics and Reproductive Medicine "Genetico" 0 1 0 0 0 0 0 1

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