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
451 304 825 413 135 1 10 1734

Condition and significance breakdown #

Total conditions: 42
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Hypertrophic cardiomyopathy 293 78 423 139 47 0 3 949
not provided 215 142 253 104 24 0 5 693
not specified 3 2 258 210 70 0 0 503
Cardiomyopathy 45 27 148 86 38 0 0 329
Familial hypertrophic cardiomyopathy 4 66 44 118 37 37 0 2 261
Cardiovascular phenotype 73 13 87 56 18 0 0 246
Primary familial hypertrophic cardiomyopathy 34 45 55 11 3 0 0 145
Left ventricular noncompaction 10 7 6 49 19 43 0 0 120
Dilated Cardiomyopathy, Dominant 0 0 45 17 0 0 0 62
Left ventricular noncompaction cardiomyopathy 0 1 23 3 0 0 0 27
Familial hypertrophic cardiomyopathy 1 10 0 9 1 0 0 0 20
Familial hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 10 2 4 0 0 0 0 16
Primary dilated cardiomyopathy 1 3 6 3 1 0 0 14
Familial dilated cardiomyopathy 2 1 4 0 2 0 0 9
MYBPC3-Related Disorders 3 1 1 0 0 0 0 5
Dilated cardiomyopathy 1A 0 0 2 0 1 0 0 3
Inborn genetic diseases 0 2 1 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
Catecholaminergic polymorphic ventricular tachycardia type 1 0 0 2 0 0 0 0 2
Conduction disorder of the heart 1 0 1 0 0 0 0 2
Left ventricular hypertrophy 2 0 0 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; Hypertrophic cardiomyopathy 2 0 0 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; Dilated cardiomyopathy 0 0 0 0 1 0 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
Dilated cardiomyopathy 1A; Familial hypertrophic cardiomyopathy 4 0 1 0 0 0 0 0 1
Dilated cardiomyopathy; Premature ventricular contraction 0 0 0 1 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
Left ventricular noncompaction; Hypertrophic cardiomyopathy 1 0 0 0 0 0 0 1
Peripheral neuropathy 0 0 1 0 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

Submitter and significance breakdown #

Total submitters: 66
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 194 33 387 193 48 0 0 855
GeneDx 216 84 211 131 66 0 3 711
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 170 27 226 116 22 0 0 561
Ambry Genetics 71 14 88 56 18 0 0 247
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 1 104 40 43 0 0 135
Color 0 0 50 54 27 0 0 131
Stanford Center for Inherited Cardiovascular Disease, Stanford University 13 37 58 7 1 0 0 116
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 25 14 33 12 5 0 0 89
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 21 0 9 8 24 0 0 62
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 21 7 26 1 1 0 0 56
Integrated Genetics/Laboratory Corporation of America 20 3 12 13 6 0 0 54
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
CeGaT Praxis fuer Humangenetik Tuebingen 7 4 23 12 0 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
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 3 1 6 5 8 0 0 23
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
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
Center for Medical Genetics Ghent,University of Ghent 5 4 0 0 0 0 0 9
Athena Diagnostics Inc 0 1 3 1 2 0 0 7
GenomeConnect, ClinGen 0 0 0 0 0 0 7 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 5 1 0 0 0 0 0 6
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
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 3 1 0 0 0 0 0 4
Heart Center,Academic Medical Center Amsterdam 0 4 0 0 0 0 0 4
Genetics and Genomics Program,Sidra Medicine 2 2 0 0 0 0 0 4
Division of Genomic Diagnostics,The 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 1 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 1 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 2 0 0 0 0 2
Broad Institute Rare Disease Group,Broad Institute 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
Institute of Human Genetics,Klinikum rechts der Isar 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
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
Institute of Human Genetics,University of Wuerzburg 0 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 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

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