ClinVar Miner

Variants in gene MYH7

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Gene type:

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
240 525 2632 1526 241 24 4373

Condition and significance breakdown #

Total conditions: 76
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hypertrophic cardiomyopathy 178 217 1592 1073 66 0 3025
Cardiomyopathy 38 64 970 665 47 0 1736
Cardiovascular phenotype 51 93 615 389 24 0 1155
not provided 79 208 608 240 149 0 1151
not specified 1 3 282 253 105 0 576
Hypertrophic cardiomyopathy 1 65 108 143 22 11 2 311
Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 12 8 92 27 5 0 144
Dilated cardiomyopathy 1S 20 30 79 10 8 0 141
Myosin storage myopathy 12 13 86 17 13 0 138
MYH7-related skeletal myopathy 8 4 36 19 46 3 116
MYH7-related disorder 11 13 30 43 3 3 103
Primary familial hypertrophic cardiomyopathy 22 23 22 1 1 0 64
Primary dilated cardiomyopathy 7 25 33 2 0 0 60
Familial cardiomyopathy 11 5 15 1 0 0 32
Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 5 7 12 0 0 0 24
Myopathy, myosin storage, autosomal recessive 7 1 8 0 2 0 18
Left ventricular noncompaction cardiomyopathy 3 5 7 0 0 0 15
See cases 2 1 11 0 0 0 14
Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1S 1 6 4 0 0 0 11
Congenital myopathy with fiber type disproportion 0 4 5 0 0 1 10
Left ventricular noncompaction 2 5 2 0 1 0 10
Inborn genetic diseases 0 2 3 0 0 0 5
Left ventricular noncompaction 5 5 0 0 0 0 0 5
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 5 5
Hypertrophic cardiomyopathy 2 0 0 0 0 0 3 3
Long QT syndrome 0 0 3 0 0 0 3
Primary familial dilated cardiomyopathy 2 0 1 0 0 0 3
Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 2 0 0 0 0 0 2
Hyaline body myopathy 1 1 0 0 0 0 2
Melanoma 0 0 0 0 0 2 2
Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 0 0 2 0 0 0 2
Wolff-Parkinson-White pattern 0 1 1 0 0 0 2
Abnormal cardiac ventricular function 0 0 1 0 0 0 1
Adrenocortical carcinoma, hereditary 0 0 0 0 0 1 1
Arrhythmogenic right ventricular dysplasia 9 0 0 1 0 0 0 1
Biventricular noncompaction cardiomyopathy 0 0 1 0 0 0 1
Cardiac arrhythmia; Hypertrophic cardiomyopathy 0 0 1 0 0 0 1
Cardiomyopathy, hypertrophic, midventricular, digenic 1 0 0 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 0 1 1
Congenital myopathy 0 1 0 0 0 0 1
Dilated cardiomyopathy 1R 0 0 1 0 0 0 1
Ebstein anomaly 0 0 1 0 0 0 1
Exertional Heat Illness 0 0 1 0 0 0 1
Gastric cancer 0 0 0 0 0 1 1
Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 0 1 0 0 0 0 1
Hypertrophic cardiomyopathy 1; Left ventricular noncompaction 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 0 0 0 0 0 1 1
Hypertrophic cardiomyopathy 1; Left ventricular noncompaction 1; Myosin storage myopathy; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 0 0 0 0 0 1 1
Hypertrophic cardiomyopathy 1; Myosin storage myopathy; Dilated cardiomyopathy 1S 0 1 0 0 0 0 1
Hypertrophic cardiomyopathy 1; Myosin storage myopathy; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 0 1 0 0 0 0 1
Hypertrophic cardiomyopathy 4 1 0 0 0 0 0 1
Hypertrophic cardiomyopathy; Dyspnea 0 1 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
Limb-girdle muscular dystrophy 0 0 1 0 0 0 1
MYH7-related cardiomyopathy 0 0 1 0 0 0 1
Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; MYH7-related skeletal myopathy 0 0 1 0 0 0 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 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; Hypertrophic cardiomyopathy 1; Myosin storage myopathy; Left ventricular noncompaction 0 0 0 0 0 1 1
Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy; Left ventricular noncompaction cardiomyopathy 0 0 1 0 0 0 1
Primary dilated cardiomyopathy; Hypotonia 0 0 1 0 0 0 1
Primary dilated cardiomyopathy; Left ventricular noncompaction 1 0 0 0 0 0 1
Primary dilated cardiomyopathy; Left ventricular noncompaction cardiomyopathy 0 1 0 0 0 0 1
Primary dilated cardiomyopathy; Myocarditis 0 1 0 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 0 1 0 0 0 0 1
Restrictive cardiomyopathy; Left ventricular noncompaction; Hypertrophic cardiomyopathy 1 0 0 0 0 0 1
Sudden cardiac death 0 0 1 0 0 0 1
Sudden unexplained death 0 0 1 0 0 0 1
Syncope 0 0 1 0 0 0 1
Uterine carcinosarcoma 0 0 0 0 0 1 1
Ventricular fibrillation 0 0 0 1 0 0 1
Ventricular fibrillation, paroxysmal familial, type 1 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 158
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 175 138 1554 1073 55 0 2995
Color Diagnostics, LLC DBA Color Health 12 32 614 539 41 0 1238
Ambry Genetics 45 77 593 389 24 0 1128
GeneDx 54 144 425 194 181 0 998
All of Us Research Program, National Institutes of Health 13 24 540 334 24 0 935
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 39 82 207 94 25 0 447
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 28 32 146 61 13 0 280
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 27 13 75 76 5 0 196
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 23 29 62 45 29 0 188
CeGaT Center for Human Genetics Tuebingen 14 29 53 70 2 0 168
Fulgent Genetics, Fulgent Genetics 13 12 99 27 5 0 156
PreventionGenetics, part of Exact Sciences 7 4 27 58 31 0 127
ClinGen Cardiomyopathy Variant Curation Expert Panel 26 16 43 4 36 0 125
Revvity Omics, Revvity 11 9 101 3 0 0 124
Illumina Laboratory Services, Illumina 1 4 73 32 46 0 107
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 15 5 23 32 30 0 105
Clinical Genetics, Academic Medical Center 15 6 22 3 57 0 103
Mayo Clinic Laboratories, Mayo Clinic 10 7 36 15 23 0 91
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 17 6 18 18 28 0 87
Blueprint Genetics 20 30 33 3 0 0 86
Stanford Center for Inherited Cardiovascular Disease, Stanford University 14 24 45 2 0 0 85
Genome Diagnostics Laboratory, University Medical Center Utrecht 9 7 14 21 23 0 74
Breakthrough Genomics, Breakthrough Genomics 0 0 1 25 43 0 69
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 11 3 15 23 17 0 69
3billion 25 24 18 0 0 0 67
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 11 3 8 14 26 0 62
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 16 15 28 1 0 0 60
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 20 11 21 1 1 0 54
OMIM 40 0 0 0 0 0 40
Clinical Genetics Laboratory, Skane University Hospital Lund 11 9 12 0 0 0 32
Eurofins Ntd Llc (ga) 4 0 20 3 5 0 32
Evolutionary and Medical Genetics Laboratory, Centre for Cellular and Molecular Biology 11 5 15 1 0 0 32
AiLife Diagnostics, AiLife Diagnostics 2 2 25 0 0 0 29
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 26 0 0 0 0 26
Center for Human Genetics, University of Leuven 9 6 10 0 0 0 25
Cohesion Phenomics 0 0 0 0 25 0 25
Institute of Human Genetics, University of Leipzig Medical Center 5 5 11 0 1 0 22
Baylor Genetics 8 2 11 0 0 0 21
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 1 1 13 3 2 0 20
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 1 1 17 0 0 19
Genetic Services Laboratory, University of Chicago 0 0 2 8 8 0 18
CSER _CC_NCGL, University of Washington 0 3 13 0 0 0 16
Institute of Human Genetics, University of Wuerzburg 1 4 8 0 0 3 16
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 5 10 0 0 0 16
Athena Diagnostics 0 0 1 1 13 0 15
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 5 9 0 0 0 14
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 4 10 0 0 0 0 14
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 13 0 0 0 13
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 4 7 0 0 0 13
Institute of Immunology and Genetics Kaiserslautern 6 3 4 0 0 0 13
Mendelics 1 4 6 1 1 0 13
Juno Genomics, Hangzhou Juno Genomics, Inc 4 7 1 0 0 0 12
Human Genetics Bochum, Ruhr University Bochum 2 7 2 0 0 0 11
Laboratory of Genetics, Children's Clinical University Hospital Latvia 2 2 3 2 1 0 10
Phosphorus, Inc. 4 2 2 2 0 0 10
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 9 9
Klaassen Lab, Charite University Medicine Berlin 3 4 2 0 0 0 9
Clinical Genetics Laboratory, Region Ostergotland 6 1 1 0 0 0 8
Genetics and Molecular Pathology, SA Pathology 2 2 4 0 0 0 8
Lildballe Lab, Aarhus University Hospital 3 3 2 0 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 0 3 5 0 0 0 8
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 5 0 0 0 0 8
Variantyx, Inc. 3 5 0 0 0 0 8
Clinical Genomics Laboratory, Stanford Medicine 0 0 7 0 0 0 7
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 2 3 2 0 0 0 7
Dasa 5 0 1 0 1 0 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 2 1 0 0 7
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 2 1 0 0 0 7
MGZ Medical Genetics Center 0 3 4 0 0 0 7
New York Genome Center 1 1 5 0 0 0 7
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 5 0 0 0 0 6
Genetics and Genomics Program, Sidra Medicine 0 1 5 0 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 3 1 0 0 0 6
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 6 0 0 0 0 6
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 3 1 0 0 5
Clinical Genomics Laboratory, Washington University in St. Louis 0 3 2 0 0 0 5
Department of Human Genetics, Hannover Medical School 2 2 1 0 0 0 5
Knight Diagnostic Laboratories, Oregon Health and Sciences University 3 0 1 1 0 0 5
Molecular Genetics, Royal Melbourne Hospital 0 2 2 1 0 0 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 2 1 0 0 0 4
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 2 0 1 1 0 0 4
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 2 2 0 0 0 4
Centre of Medical Genetics, University Hospital Muenster 2 0 2 0 0 0 4
GeneReviews 0 0 0 0 0 4 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Genomics England Pilot Project, Genomics England 0 4 0 0 0 0 4
Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen 0 2 2 0 0 0 4
Institute of Human Genetics Munich, TUM University Hospital 4 0 0 0 0 0 4
KardioGenetik, Herz- und Diabeteszentrum NRW 1 1 2 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 2 0 0 0 4
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 3 0 0 0 3
Center for Medical Genetics Ghent, University of Ghent 2 1 0 0 0 0 3
Dept of Medical Biology, Uskudar University 0 0 3 0 0 0 3
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 2 0 1 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 1 1 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 0 0 0 0 0 3
ICMR Centre for Advanced Research and Excellence in Heart Failure, Sree Chitra Tirunal Institute for Medical Sciences & Technology, KERALA, INDIA 0 3 0 0 0 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 2 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 1 0 0 0 3
Neurogenetics Laboratory, Royal Perth Hospital 3 0 0 0 0 0 3
Center for Genetic Medicine Research, Children's National Medical Center 0 1 1 0 0 0 2
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University 2 0 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 1 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Hadassah Hebrew University Medical Center 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
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 1 0 0 0 0 2
Institute of Human Genetics, Heidelberg University 1 1 0 0 0 0 2
KTest Genetics, KTest 2 0 0 0 0 0 2
Loeys Lab, Universiteit Antwerpen 1 0 1 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 1 0 0 0 2
MVZ Martinsried, Medicover Genetics 0 1 1 0 0 0 2
MVZ Medizinische Genetik Mainz 0 0 2 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 0 2
Molecular Genetics Laboratory, Motol Hospital 1 1 0 0 0 0 2
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 2 0 0 0 0 2
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 2 0 0 0 0 2
deCODE genetics, Amgen 0 2 0 0 0 0 2
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
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Biotechnology Department, Cairo University 1 0 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Centro Nacional de Genética Medica, Administración Nacional de Laboratorios e Institutos de Salud (ANLIS) “Dr. Carlos G Malbrán” 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 1 0 0 0 0 1
Department of Neurology, University Hospital of Strasbourg 1 0 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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Genetics Laboratory, Life Sciences Research Department, Aswan Heart Research Centre 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Gharavi Laboratory, Columbia University 1 0 0 0 0 0 1
Helix 0 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 1 0 0 0 0 0 1
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 1 0 0 0 0 1
Obstetrics Unit, Tongji Hospital, Huazhong University of Science and Technology 1 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
The Genetics Institute, Rambam Health Care Campus 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Uniformed Services University, Consortium for Health and Military Performance 0 0 1 0 0 0 1
Zaffran Lab, Genetics of Cardiac Diseases Laboratory, Marseille Medical Genetics 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1

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