ClinVar Miner

Variants in gene MYH6

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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 risk factor not provided total
13 11 1110 721 155 1 3 1785

Condition and significance breakdown #

Total conditions: 47
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Hypertrophic cardiomyopathy 14 4 1 681 522 83 0 0 1281
Cardiovascular phenotype 0 0 478 264 23 0 0 765
not provided 1 3 339 167 38 0 1 513
not specified 0 0 111 120 136 0 2 312
Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 0 0 142 30 5 0 0 177
Cardiomyopathy 0 1 36 44 39 0 0 117
MYH6-related condition 0 0 45 43 9 0 0 97
Inborn genetic diseases 1 1 24 0 0 0 0 26
Hypertrophic cardiomyopathy 0 0 18 3 0 0 0 21
Primary familial hypertrophic cardiomyopathy 0 0 17 2 1 0 0 20
Atrial septal defect 3 1 0 17 0 1 0 0 19
Primary dilated cardiomyopathy 0 0 14 2 0 0 0 16
Dilated cardiomyopathy 1EE 3 1 9 0 1 0 0 14
Hypertrophic cardiomyopathy 1 1 0 7 0 0 0 0 8
Atrial septal defect 0 0 6 1 0 0 0 7
Dilated Cardiomyopathy, Dominant 0 0 6 1 0 0 0 7
Long QT syndrome 0 1 6 0 0 0 0 7
Primary familial dilated cardiomyopathy 1 0 4 0 0 0 0 5
Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 0 0 3 0 0 0 0 3
MYH6-related cardiac defects 0 0 3 0 0 0 0 3
Sick sinus syndrome 3, susceptibility to 0 0 2 0 0 1 0 3
Arrhythmogenic right ventricular cardiomyopathy 0 0 1 1 0 0 0 2
Conduction disorder of the heart 0 0 2 0 0 0 0 2
Dilated cardiomyopathy 1A 0 0 2 0 0 0 0 2
Heart, malformation of 1 1 0 0 0 0 0 2
Left ventricular noncompaction 0 0 2 0 0 0 0 2
Primary dilated cardiomyopathy; Migraine; Hemiplegia 0 0 2 0 0 0 0 2
Wolff-Parkinson-White pattern 0 1 1 0 0 0 0 2
AV Block Third Degree Adverse Event 0 0 1 0 0 0 0 1
Arrhythmogenic right ventricular dysplasia 9 0 0 1 0 0 0 0 1
Brugada syndrome 0 0 1 0 0 0 0 1
Brugada syndrome; Hypertrophic cardiomyopathy; Left ventricular noncompaction cardiomyopathy 0 0 0 1 0 0 0 1
Congestive heart failure 0 0 1 0 0 0 0 1
Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14 0 0 1 0 0 0 0 1
Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Sick sinus syndrome 3, susceptibility to 0 0 1 0 0 0 0 1
Heart disease 0 0 1 0 0 0 0 1
Hypertrophic cardiomyopathy 14; Sudden cardiac death 0 1 0 0 0 0 0 1
Hypoplastic left heart syndrome 0 1 0 0 0 0 0 1
Left ventricular noncompaction 1 0 0 1 0 0 0 0 1
Left ventricular noncompaction cardiomyopathy; Aborted sudden cardiac death 0 0 1 0 0 0 0 1
MYH6-Related Disorders 0 0 1 0 0 0 0 1
Myosin, cardiac, heavy chain variant 1 0 0 0 0 0 0 1
Primary dilated cardiomyopathy; Ventricular tachycardia 0 0 0 1 0 0 0 1
Prolonged QT interval 0 0 1 0 0 0 0 1
Restrictive cardiomyopathy 0 0 1 0 0 0 0 1
Restrictive cardiomyopathy; Hypertrophic cardiomyopathy 0 0 0 0 1 0 0 1
Ventricular fibrillation 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 78
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 2 0 669 528 80 0 0 1279
Ambry Genetics 1 1 502 264 23 0 0 790
GeneDx 0 2 200 128 47 0 0 376
Fulgent Genetics, Fulgent Genetics 0 0 142 30 5 0 0 177
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 75 52 37 0 2 166
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 44 28 61 0 0 133
Clinical Genetics, Academic Medical Center 0 0 26 5 91 0 0 122
PreventionGenetics, part of Exact Sciences 0 0 45 44 28 0 0 117
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 0 34 40 36 0 0 110
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 27 47 35 0 0 109
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 21 36 38 0 0 95
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 19 46 8 0 0 73
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 13 36 21 0 0 70
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 13 20 31 0 0 64
CeGaT Center for Human Genetics Tuebingen 0 0 26 22 6 0 0 54
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 1 0 34 9 7 0 0 51
AiLife Diagnostics, AiLife Diagnostics 0 0 46 0 0 0 0 46
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 16 6 5 0 0 27
Revvity Omics, Revvity 0 0 27 0 0 0 0 27
Blueprint Genetics 0 0 17 2 1 0 0 20
Eurofins Ntd Llc (ga) 0 0 9 5 4 0 0 18
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 1 2 7 3 0 0 13
Baylor Genetics 1 0 11 0 0 0 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 8 1 0 0 0 9
Illumina Laboratory Services, Illumina 0 0 8 1 0 0 0 9
OMIM 7 0 0 0 0 1 0 8
Mayo Clinic Laboratories, Mayo Clinic 0 0 8 0 0 0 0 8
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 7 0 0 0 0 7
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 4 2 1 0 0 7
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 1 0 3 2 0 0 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 6 0 0 0 0 6
Dept of Medical Biology, Uskudar University 0 1 5 0 0 0 0 6
Genetics and Genomics Program, Sidra Medicine 0 0 5 0 0 0 0 5
Mendelics 0 0 2 0 2 0 0 4
Center for Human Genetics, University of Leuven 0 0 4 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 4 0 0 0 0 4
MGZ Medical Genetics Center 0 0 3 0 0 0 0 3
New York Genome Center 0 0 3 0 0 0 0 3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 3 0 0 0 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 2 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 1 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 2 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 0 2
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 0 0 2 0 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 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 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 0 1
Laboratory for Genetics of Human Development Center for Human Genetics, Catholic University of Leuven 0 1 0 0 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute 0 1 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 0 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 1 0 0 0 0 1
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 0 0 1 0 0 0 0 1
Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen 0 0 1 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 0 1
Phosphorus, Inc. 0 0 0 0 1 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 0 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 0 1
3billion 0 0 1 0 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 0 0 1 0 0 0 0 1
KTest Genetics, KTest 0 1 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 1
Genotypic Technology Pvt Ltd 0 0 1 0 0 0 0 1

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