ClinVar Miner

Variants in gene MYH7

See also:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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 not provided total
156 336 932 430 117 1 1630

Condition and significance breakdown #

Total conditions: 60
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 69 164 270 216 65 1 728
Hypertrophic cardiomyopathy 82 106 438 80 7 0 669
not specified 1 2 303 222 85 0 572
Cardiovascular phenotype 16 31 80 58 15 0 200
Cardiomyopathy 3 11 75 56 40 0 180
Familial hypertrophic cardiomyopathy 1 40 53 28 2 2 0 112
Myopathy, distal, 1 5 2 35 39 7 0 88
Left ventricular noncompaction cardiomyopathy 1 3 38 38 7 0 87
Myosin storage myopathy 3 1 34 39 7 0 84
Dilated Cardiomyopathy, Dominant 0 0 31 39 7 0 77
Scapuloperoneal myopathy 0 0 31 39 7 0 77
Primary familial hypertrophic cardiomyopathy 17 29 31 1 1 0 72
Familial cardiomyopathy 12 5 18 1 0 0 36
Primary dilated cardiomyopathy 4 21 10 1 0 0 33
Dilated cardiomyopathy 1S 7 6 10 0 0 0 22
Familial hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; Myopathy, distal, 1; Scapuloperoneal myopathy, MYH7-related 7 2 8 0 0 0 17
Left ventricular noncompaction 2 4 2 0 0 0 8
Familial dilated cardiomyopathy 2 2 2 0 0 0 6
Left ventricular noncompaction 5 6 0 0 0 0 0 6
MYH7-Related Disorders 1 3 2 0 0 0 6
Myopathy, myosin storage, autosomal recessive 2 0 3 0 0 0 5
Inborn genetic diseases 0 0 4 0 0 0 4
Dilated cardiomyopathy 0 1 2 0 0 0 3
Wolff-Parkinson-White pattern 0 2 1 0 0 0 3
Dilated cardiomyopathy 1S; Myopathy, distal, 1 2 0 0 0 0 0 2
Familial hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Dilated cardiomyopathy 1S; Myopathy, distal, 1; Scapuloperoneal myopathy, MYH7-related 1 1 0 0 0 0 2
Primary dilated cardiomyopathy; Left ventricular noncompaction 2 0 0 0 0 0 2
Restrictive cardiomyopathy 1 1 0 0 0 0 2
Scapuloperoneal myopathy, MYH7-related 1 1 0 0 0 0 2
Arrhythmia; Hypertrophic cardiomyopathy 0 0 1 0 0 0 1
Arrhythmogenic right ventricular cardiomyopathy 0 0 1 0 0 0 1
Arrhythmogenic right ventricular cardiomyopathy, type 9 0 0 1 0 0 0 1
Biventricular noncompaction cardiomyopathy 0 0 1 0 0 0 1
Camptocormia 1 0 0 0 0 0 1
Cardiomyopathy, hypertrophic, midventricular, digenic 1 0 0 0 0 0 1
Cardiomyopathy, left ventricular noncompaction 1 0 0 0 0 0 1
Congenital myopathy 0 1 0 0 0 0 1
Congenital myopathy with fiber type disproportion 1 0 0 0 0 0 1
Ebstein anomaly of the tricuspid valve 0 1 0 0 0 0 1
Familial hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1S 0 1 0 0 0 0 1
Familial hypertrophic cardiomyopathy 1; Myosin storage myopathy; Dilated cardiomyopathy 1S; Myopathy, distal, 1; Scapuloperoneal myopathy, MYH7-related 0 1 0 0 0 0 1
Hyaline body myopathy 0 1 0 0 0 0 1
Hypertrophic cardiomyopathy; Chest pain 1 0 0 0 0 0 1
Hypertrophic cardiomyopathy; Dyspnea 0 1 0 0 0 0 1
Increased left ventricular wall thickness 0 0 1 1 0 0 1
Left ventricular hypertrophy; Left ventricular noncompaction cardiomyopathy 0 1 0 0 0 0 1
Muscular Diseases 0 1 0 0 0 0 1
Paroxysmal familial ventricular fibrillation 1 0 0 0 1 0 0 1
Primary dilated cardiomyopathy; Congenital myopathy 1 0 0 0 0 0 1
Primary dilated cardiomyopathy; Epicanthus; Lambdoidal craniosynostosis; Delayed speech and language development; Delayed gross motor development; Sagittal craniosynostosis; Muscular ventricular septal defect 0 0 1 0 0 0 1
Primary dilated cardiomyopathy; Left ventricular noncompaction cardiomyopathy 0 1 0 0 0 0 1
Primary dilated cardiomyopathy; Muscular hypotonia 0 0 1 0 0 0 1
Primary dilated cardiomyopathy; Neuromuscular Diseases 1 0 0 0 0 0 1
Prolonged QT interval 0 0 1 0 0 0 1
Restrictive cardiomyopathy; Hypertrophic cardiomyopathy 1 0 0 0 0 0 1
Restrictive cardiomyopathy; Left ventricular noncompaction; Hypertrophic cardiomyopathy 1 0 0 0 0 0 1
Severe combined immunodeficiency disease; Immunodeficiency; Lymphopenia; Abnormality of cellular immune system; Abnormality of T cell physiology; Combined immunodeficiency 0 1 0 0 0 0 1
Sudden cardiac death 0 0 1 0 0 0 1
Ventricular fibrillation 0 0 0 1 0 0 1
Ventricular tachycardia 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 70
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 76 39 400 213 42 0 769
GeneDx 63 124 222 145 78 0 632
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 40 84 247 101 27 0 499
Ambry Genetics 16 30 84 58 15 0 203
Stanford Center for Inherited Cardiovascular Disease, Stanford University 17 27 56 2 0 0 102
Blueprint Genetics 23 37 38 3 0 0 101
Color 0 1 25 48 27 0 101
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 21 17 12 0 38 0 88
Illumina Clinical Services Laboratory,Illumina 0 1 31 40 7 0 79
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 1 6 44 9 2 0 62
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 19 10 18 1 1 0 49
PreventionGenetics,PreventionGenetics 0 0 0 19 29 0 48
CeGaT Praxis fuer Humangenetik Tuebingen 0 6 26 15 0 0 47
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 7 18 18 0 3 0 46
OMIM 43 0 0 0 0 0 43
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 6 0 22 4 5 0 37
Evolutionary and Medical Genetics Laboratory, Centre for Cellular and Molecular Biology 12 5 18 1 0 0 36
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 34 0 0 0 0 34
Integrated Genetics/Laboratory Corporation of America 7 3 15 5 1 0 31
Center for Human Genetics,University of Leuven 11 8 11 0 0 0 30
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 1 1 15 3 2 0 22
CSER _CC_NCGL, University of Washington 0 4 17 0 0 0 21
Genetic Services Laboratory, University of Chicago 0 0 4 7 8 0 19
Fulgent Genetics,Fulgent Genetics 7 2 8 0 0 0 17
Athena Diagnostics Inc 0 0 1 2 9 0 12
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 1 3 2 4 0 12
Mendelics 0 6 5 1 0 0 12
Phosphorus, Inc. 5 3 3 0 0 0 11
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 5 2 0 0 0 8
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 3 4 0 0 0 8
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 2 3 2 0 0 0 7
GeneReviews 6 0 0 0 0 0 6
Petrovsky Russian Research Center of Surgery, The Federal Agency for Scientific Organizations 1 3 2 0 0 0 6
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 2 0 3 1 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 3 1 0 0 5
Institute of Human Genetics,University of Wuerzburg 0 1 4 0 0 0 5
Klaassen Lab,Charite University Medicine Berlin 2 1 2 0 0 0 5
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 2 2 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 1 0 0 0 4
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia 0 2 2 0 0 0 4
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 1 1 0 3
Institute of Human Genetics,Klinikum rechts der Isar 2 1 0 0 0 0 3
Neurogenetics Laboratory,Royal Perth Hospital 3 0 0 0 0 0 3
Center for Medical Genetics Ghent,University of Ghent 2 1 0 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 1 0 0 0 3
Baylor Genetics 0 1 1 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 1 0 0 0 2
Center for Genetic Medicine Research,Children's National Medical Center 0 1 1 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 1 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 1 0 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 1 0 0 0 2
Gharavi Laboratory,Columbia University 2 0 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 1 0 2
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Department of Neurology, University Hospital of Strasbourg 1 0 0 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
Rampazzo Lab, Human Molecular Genetics Unit,University of Padua 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 1 0 0 0 0 1
Academic Center for Education, Culture and Research, Motamed Cancer Institute 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 0 1 0 0 0 1
Dr. Alfred Bastarche Laboratory,Dr. Georges L. Dumont University Hospital Centre 0 1 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 0 1 0 0 0 0 1
Cardiology unit,Meyer University Hospital 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.