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
416 269 660 323 93 1 9 1449

Condition and significance breakdown #

Total conditions: 31
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Hypertrophic cardiomyopathy 158 42 278 126 36 0 2 616
not provided 211 138 236 16 7 0 5 570
not specified 1 2 260 204 70 0 0 497
Primary familial hypertrophic cardiomyopathy 170 65 53 11 3 0 0 288
Cardiovascular phenotype 71 14 93 53 17 0 0 246
Cardiomyopathy 29 12 103 68 30 0 0 235
Familial hypertrophic cardiomyopathy 4 65 40 26 20 28 0 2 161
Dilated Cardiomyopathy, Dominant 0 0 45 17 0 0 0 62
Left ventricular noncompaction cardiomyopathy 0 0 44 17 1 0 0 62
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
Left ventricular noncompaction 10 6 2 9 0 0 0 0 15
Primary dilated cardiomyopathy 1 3 6 3 1 0 0 14
Familial dilated cardiomyopathy 1 0 2 0 1 0 0 4
MYBPC3-Related Disorders 3 1 0 0 0 0 0 4
Dilated cardiomyopathy 1A 0 0 2 0 1 0 0 3
Inborn genetic diseases 0 3 0 0 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
Left ventricular hypertrophy 2 0 0 0 0 0 0 2
Paroxysmal atrial fibrillation 0 0 1 1 0 0 0 2
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
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
Heart block; Hypertrophic cardiomyopathy; Tachycardia; Asymmetric septal hypertrophy; Dyspnea; Ventricular extrasystoles; Noncompaction cardiomyopathy 1 0 0 0 0 0 0 1
Long QT syndrome 0 0 1 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: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
GeneDx 213 81 211 110 51 0 3 669
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 170 24 228 116 21 0 0 559
Invitae 146 27 233 108 35 0 0 549
Ambry Genetics 68 16 93 53 17 0 0 247
Blueprint Genetics, 46 54 46 7 0 0 0 150
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
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 15 12 54 16 3 0 0 100
Illumina Clinical Services Laboratory,Illumina 5 1 46 18 1 0 0 68
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 21 0 9 8 24 0 0 62
Integrated Genetics/Laboratory Corporation of America 20 4 15 9 6 0 0 54
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 14 9 20 10 1 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 Medical Center 3 5 36 5 0 0 0 49
Genome Diagnostics Laboratory,University Medical Center Utrecht 14 1 4 9 18 0 0 46
Biesecker Lab/Human Development Section,National Institutes of Health 1 0 19 7 10 0 0 37
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 0 0 0 5 17 0 0 22
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 10 0 9 1 0 0 0 20
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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 3 1 2 2 4 0 0 12
Center for Medical Genetics Ghent,University of Ghent 5 4 0 0 0 0 0 9
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 4 0 0 0 0 7
Athena Diagnostics Inc 0 1 2 1 2 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 0 6 6
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
HudsonAlpha Institute for Biotechnology 4 0 0 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 0 4 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
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
SIB Swiss Institute of Bioinformatics 0 0 2 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
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
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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 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
Klaassen Lab,Charite University Medicine Berlin 0 1 0 0 0 0 0 1

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