ClinVar Miner

Variants in gene MYH7

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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 not provided total
151 313 853 337 91 1 1423

Condition and significance breakdown #

Total conditions: 54
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hypertrophic cardiomyopathy 74 54 322 146 35 0 595
not specified 1 1 327 217 85 0 590
not provided 69 162 257 11 7 1 471
Cardiovascular phenotype 16 31 80 58 15 0 200
Cardiomyopathy 6 11 73 56 40 0 181
Primary familial hypertrophic cardiomyopathy 33 68 29 1 1 0 117
Familial hypertrophic cardiomyopathy 1 40 48 23 2 2 0 104
Myopathy, distal, 1 5 1 35 39 7 0 87
Left ventricular noncompaction cardiomyopathy 1 2 36 38 7 0 84
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
Familial cardiomyopathy 12 5 18 1 0 0 36
Primary dilated cardiomyopathy 6 21 7 1 0 0 32
Dilated cardiomyopathy 1S 6 4 10 0 0 0 19
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 5 6 0 0 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
MYH7-Related Disorders 1 1 1 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
Left ventricular noncompaction 0 2 0 0 0 0 2
Restrictive cardiomyopathy 1 1 0 0 0 0 2
Arrhythmia; Hypertrophic 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 dilated cardiomyopathy 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; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Dilated cardiomyopathy 1S; Myopathy, distal, 1; Scapuloperoneal myopathy, MYH7-related 1 0 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
Familial restrictive cardiomyopathy 1 0 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; 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
Prolonged QT interval 0 0 1 0 0 0 1
Scapuloperoneal myopathy, MYH7-related 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
Tetralogy of Fallot 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 63
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 63 123 223 112 57 0 578
Invitae 69 37 284 118 29 0 537
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 40 60 269 97 27 0 493
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
PreventionGenetics 0 0 0 19 29 0 48
OMIM 43 0 0 0 0 0 43
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 18 7 16 1 1 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 2 18 3 1 0 31
Center for Human Genetics,University of Leuven 11 8 11 0 0 0 30
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 5 10 9 0 0 0 24
Biesecker Lab/Human Development Section,National Institutes of Health 1 1 15 3 2 0 22
CSER_CC_NCGL; University of Washington Medical Center 0 4 17 0 0 0 21
Genetic Services Laboratory, University of Chicago 0 0 4 7 8 0 19
Fulgent Genetics 7 2 8 0 0 0 17
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 8 4 0 0 15
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 1 3 2 4 0 12
Phosphorus, Inc. 5 3 3 0 0 0 11
Athena Diagnostics Inc 0 0 0 1 7 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 1 3 3 0 0 0 7
GeneReviews 6 0 0 0 0 0 6
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 3 1 0 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 3 1 0 0 5
Petrovsky Russian Research Center of Surgery, The Federal Agency for Scientific Organizations 0 3 2 0 0 0 5
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 2 2 0 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
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
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 1 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 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
HudsonAlpha Institute for Biotechnology 1 0 1 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
Baylor Miraca Genetics Laboratories, 0 0 1 0 0 0 1
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
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 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
Institute of Human Genetics,University of Wuerzburg 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 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
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

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