ClinVar Miner

Variants in gene MYH6

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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
14 13 1487 955 164 12 2387

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 14 4 1 857 667 84 0 1603
Cardiovascular phenotype 0 0 794 431 23 0 1248
not provided 2 2 488 197 60 1 697
not specified 0 0 129 154 146 2 363
Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 0 0 143 30 5 0 178
MYH6-related disorder 1 0 62 45 9 0 117
Cardiomyopathy 0 1 36 44 38 0 116
Atrial septal defect 3 2 1 26 1 1 0 31
Hypertrophic cardiomyopathy 0 0 18 2 0 0 20
Primary familial hypertrophic cardiomyopathy 0 0 17 2 1 0 20
Dilated cardiomyopathy 1EE 3 1 14 0 1 0 19
Primary dilated cardiomyopathy 0 0 14 2 0 0 16
Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 0 0 11 0 0 0 11
Hypertrophic cardiomyopathy 1 1 0 7 0 0 0 8
Long QT syndrome 0 1 6 0 0 0 7
Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14 0 0 6 0 0 0 6
Hypertrophic cardiomyopathy 2 0 0 0 0 0 5 5
Primary familial dilated cardiomyopathy 1 0 4 0 0 0 5
MYH6-related cardiac defects 0 0 4 0 0 0 4
Sick sinus syndrome 3, susceptibility to 1 0 2 0 0 0 3
Arrhythmogenic right ventricular cardiomyopathy 0 0 1 1 0 0 2
Conduction disorder of the heart 0 0 2 0 0 0 2
Congenital heart disease 0 0 2 0 0 0 2
Dilated cardiomyopathy 1A 0 0 2 0 0 0 2
Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3 0 1 1 0 0 0 2
Heart, malformation of 1 1 0 0 0 0 2
Inborn genetic diseases 1 1 0 0 0 0 2
Left ventricular noncompaction 0 0 2 0 0 0 2
MYH-6 related congenital heart defects 0 0 2 0 0 0 2
Primary dilated cardiomyopathy; Migraine; Hemiplegia 0 0 2 0 0 0 2
Wolff-Parkinson-White pattern 0 1 1 0 0 0 2
AV Block Third Degree Adverse Event 0 0 1 0 0 0 1
Arrhythmogenic right ventricular dysplasia 9 0 0 1 0 0 0 1
Autosomal dominant MYH6-related disorders 0 1 0 0 0 0 1
Brugada syndrome; Hypertrophic cardiomyopathy; Left ventricular noncompaction cardiomyopathy 0 0 0 1 0 0 1
Conduction system disorder; Left ventricular noncompaction cardiomyopathy 0 0 1 0 0 0 1
Congestive heart failure 0 0 1 0 0 0 1
Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Sick sinus syndrome 3, susceptibility to 0 0 1 0 0 0 1
Gastric cancer 0 0 0 0 0 1 1
Heart disease 0 0 1 0 0 0 1
Hypoplastic left heart syndrome 0 1 0 0 0 0 1
Incidental Discovery 0 0 1 0 0 0 1
Left ventricular noncompaction 1 0 0 1 0 0 0 1
MYH6-related cardiovascular disease 0 0 1 0 0 0 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Malignant tumor of esophagus 0 0 0 0 0 1 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Melanoma 0 0 0 0 0 1 1
Ovarian serous cystadenocarcinoma 0 0 0 0 0 1 1
Primary dilated cardiomyopathy; Ventricular tachycardia 0 0 0 1 0 0 1
Prolonged QT interval 0 0 1 0 0 0 1
Restrictive cardiomyopathy 0 0 1 0 0 0 1
Restrictive cardiomyopathy; Hypertrophic cardiomyopathy 0 0 0 0 1 0 1
Ventricular fibrillation 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 98
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 2 0 838 672 81 0 1593
Ambry Genetics 1 1 794 431 23 0 1250
GeneDx 1 1 339 129 47 0 516
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 68 60 77 0 205
Fulgent Genetics, Fulgent Genetics 0 0 148 30 5 0 183
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 75 52 37 2 166
PreventionGenetics, part of Exact Sciences 0 0 62 46 28 0 136
Clinical Genetics, Academic Medical Center 0 0 26 5 91 0 122
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 0 34 40 35 0 109
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 27 47 35 0 109
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 21 36 38 0 95
CeGaT Center for Human Genetics Tuebingen 0 0 38 44 8 0 90
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 19 30 36 0 85
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 19 46 8 0 73
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 13 36 21 0 70
Breakthrough Genomics, Breakthrough Genomics 0 0 7 32 30 0 69
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 1 0 33 9 7 0 50
AiLife Diagnostics, AiLife Diagnostics 0 0 46 0 0 0 46
Revvity Omics, Revvity 0 0 38 0 0 0 38
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 16 6 5 0 27
Blueprint Genetics 0 0 17 2 1 0 20
Eurofins Ntd Llc (ga) 0 0 9 5 4 0 18
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 17 0 0 0 17
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 12 2 0 0 14
Baylor Genetics 1 0 12 0 0 0 13
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 1 2 7 3 0 13
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 12 0 0 0 12
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 1 6 2 0 9
Mayo Clinic Laboratories, Mayo Clinic 0 0 8 0 0 0 8
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 4 2 1 0 7
OMIM 7 0 0 0 0 0 7
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 7 0 0 0 7
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 1 0 3 2 0 0 6
Dept of Medical Biology, Uskudar University 0 1 5 0 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 5 0 0 0 6
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 5 6
Zaffran Lab, Genetics of Cardiac Diseases Laboratory, Marseille Medical Genetics 0 0 6 0 0 0 6
Clinical Genomics Laboratory, Stanford Medicine 0 0 5 0 0 0 5
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 5 5
Genetics and Genomics Program, Sidra Medicine 0 0 5 0 0 0 5
Institute of Immunology and Genetics Kaiserslautern 0 1 4 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 0 5 0 0 0 5
3billion 0 0 4 0 0 0 4
Center for Human Genetics, University of Leuven 0 0 4 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 4 0 0 0 4
Mendelics 0 0 2 0 2 0 4
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 2 1 0 0 3
MGZ Medical Genetics Center 0 0 3 0 0 0 3
MVZ Medizinische Genetik Mainz 0 0 3 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 3 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University 0 0 2 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 2 0 0 0 2
ICMR Centre for Advanced Research and Excellence in Heart Failure, Sree Chitra Tirunal Institute for Medical Sciences & Technology, KERALA, INDIA 0 1 1 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 1 0 0 0 0 2
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 0 0 2 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 0 2 0 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Genotypic Technology Pvt Ltd 0 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Human Molecular Genetics Lab, National Institute for Biotechnology and Genetic Engineering College 1 0 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen 0 0 1 0 0 0 1
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 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, University of Goettingen 0 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 0 1 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
KTest Genetics, KTest 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Laboratory for Genetics of Human Development Center for Human Genetics, Catholic University of Leuven 0 1 0 0 0 0 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 1 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 0 0 1
Phosphorus, Inc. 0 0 0 0 1 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 0 1 0 0 0 1
Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute 0 0 1 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 0 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 1 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 1

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