ClinVar Miner

Variants in gene MYH7

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Gene type:
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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
176 368 1386 618 138 4 2188

Condition and significance breakdown #

Total conditions: 67
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hypertrophic cardiomyopathy 108 126 805 265 41 0 1277
Cardiomyopathy 18 36 339 292 46 0 714
not provided 73 170 280 116 33 1 627
not specified 2 3 315 228 85 0 588
Familial hypertrophic cardiomyopathy 1 34 58 96 24 9 1 206
Cardiovascular phenotype 24 31 70 59 16 0 200
Myopathy, distal, 1 5 2 43 28 49 0 127
Myosin storage myopathy 4 2 82 25 12 0 125
Dilated cardiomyopathy 1S 11 8 51 13 7 0 88
Cardiomyopathy, left ventricular noncompaction 2 3 31 33 5 0 74
Primary familial hypertrophic cardiomyopathy 20 29 31 1 1 0 74
Dilated Cardiomyopathy, Dominant 0 0 25 31 4 0 60
Primary dilated cardiomyopathy 6 24 16 1 0 0 44
Familial cardiomyopathy 12 5 18 1 0 0 36
Familial hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; Myopathy, distal, 1; MYH7-related late-onset scapuloperoneal muscular dystrophy 7 2 8 0 0 0 17
none provided 0 0 2 6 7 0 15
Scapuloperoneal myopathy 0 0 8 5 0 0 13
Congenital myopathy with fiber type disproportion 1 6 5 0 0 0 12
Left ventricular noncompaction 2 4 2 0 0 0 8
MYH7-Related Disorders 1 3 2 0 0 1 7
Inborn genetic diseases 0 2 4 0 0 0 6
Left ventricular noncompaction 5 6 0 0 0 0 0 6
Myopathy, myosin storage, autosomal recessive 2 0 4 0 0 0 6
Primary familial dilated cardiomyopathy 2 2 2 0 0 0 6
See cases 0 1 5 0 0 0 6
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; MYH7-related late-onset scapuloperoneal muscular dystrophy 1 1 0 0 0 0 2
MYH7-related late-onset scapuloperoneal muscular dystrophy 1 1 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 0 0 1 0 0 0 1
Arrhythmogenic right ventricular dysplasia 9 0 0 1 0 0 0 1
Biventricular noncompaction cardiomyopathy 0 0 1 0 0 0 1
Cardiomyopathy, hypertrophic, midventricular, digenic 1 0 0 0 0 0 1
Conduction disorder of the heart 0 1 0 0 0 0 1
Congenital myopathy 0 1 0 0 0 0 1
Dilated cardiomyopathy 1A 0 0 1 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; MYH7-related late-onset scapuloperoneal muscular dystrophy 0 1 0 0 0 0 1
Familial hypertrophic cardiomyopathy 4 1 0 0 0 0 0 1
Hyaline body myopathy 0 1 0 0 0 0 1
Hypertrophic cardiomyopathy; Biventricular noncompaction cardiomyopathy 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
Hypertrophic cardiomyopathy; Sudden unexplained death 1 0 0 0 0 0 1
Idiopathic camptocormia 1 0 0 0 0 0 1
Increased left ventricular wall thickness 0 0 1 1 0 0 1
Left ventricular hypertrophy; Cardiomyopathy, left ventricular noncompaction 0 1 0 0 0 0 1
Myopathy 0 1 0 0 0 0 1
Paroxysmal familial ventricular fibrillation 1 0 0 0 1 0 0 1
Primary dilated cardiomyopathy; Cardiomyopathy, left ventricular noncompaction 0 1 0 0 0 0 1
Primary dilated cardiomyopathy; Congenital myopathy 1 0 0 0 0 0 1
Primary dilated cardiomyopathy; Epicanthus; Craniosynostosis 4; 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; Familial hypertrophic cardiomyopathy 1; Myosin storage myopathy; MYH7-related late-onset scapuloperoneal muscular dystrophy; Left ventricular noncompaction 0 0 0 0 0 1 1
Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy 0 0 1 0 0 0 1
Primary dilated cardiomyopathy; Left ventricular noncompaction 1 0 0 0 0 0 1
Primary dilated cardiomyopathy; Muscular hypotonia 0 0 1 0 0 0 1
Primary dilated cardiomyopathy; Neuromuscular disease 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 T and B cell 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: 79
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 103 49 785 293 42 0 1271
GeneDx 63 125 221 145 78 0 632
Color Health, Inc 3 13 268 285 41 0 610
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 42 87 241 102 27 0 499
Ambry Genetics 24 32 74 59 16 0 205
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 13 17 85 21 8 0 144
Illumina Clinical Services Laboratory,Illumina 0 2 84 49 49 0 119
Stanford Center for Inherited Cardiovascular Disease, Stanford University 17 27 56 2 0 0 102
Blueprint Genetics 23 37 38 3 0 0 101
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 21 17 12 0 38 0 88
CeGaT Praxis fuer Humangenetik Tuebingen 7 11 31 22 0 0 71
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 10 22 20 2 16 0 70
Integrated Genetics/Laboratory Corporation of America 13 5 33 14 4 0 69
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 22 17 24 2 1 0 66
PreventionGenetics, PreventionGenetics 0 0 0 19 29 0 48
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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 3 2 5 9 11 0 30
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 7 9 0 0 0 17
Athena Diagnostics Inc 0 0 1 2 11 0 14
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 5 7 0 0 0 13
Mendelics 0 6 5 1 0 0 12
Phosphorus, Inc. 5 3 3 0 0 0 11
Institute of Human Genetics, University of Leipzig Medical Center 2 2 4 0 1 0 9
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 9 0 0 0 9
Baylor Genetics 2 1 5 0 0 0 8
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 3 5 0 0 0 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 4 3 0 0 0 8
Genetics and Genomics Program,Sidra Medicine 0 1 7 0 0 0 8
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 2 3 2 0 0 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 3 2 0 0 0 7
GeneReviews 6 0 0 0 0 0 6
Institute of Human Genetics,University of Wuerzburg 0 2 4 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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 3 0 1 1 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 3 1 0 0 5
Klaassen Lab,Charite University Medicine Berlin 2 1 2 0 0 0 5
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia 0 2 2 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 2 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 3
Mayo Clinic 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 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
Johns Hopkins Genomics, Johns Hopkins University 0 1 1 0 0 0 2
New York Genome Center 1 1 0 0 0 0 2
Loeys Lab,Universiteit Antwerpen 1 0 1 0 0 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
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 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
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
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
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
Genetics Laboratory, Life Sciences Research Department, Aswan Heart Research Centre 1 0 0 0 0 0 1
Cardiology unit,Meyer University Hospital 1 0 0 0 0 0 1

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