ClinVar Miner

Variants in gene MYH6

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
12 8 604 353 113 1 3 963

Condition and significance breakdown #

Total conditions: 46
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Familial hypertrophic cardiomyopathy 14 2 0 399 176 66 0 0 635
not specified 0 0 110 145 95 0 2 311
not provided 1 4 111 97 4 0 1 216
Cardiovascular phenotype 0 0 74 63 30 0 0 167
Cardiomyopathy 0 1 30 33 33 0 0 95
none provided 0 0 9 7 19 0 0 35
Primary familial hypertrophic cardiomyopathy 0 0 19 2 1 0 0 22
Hypertrophic cardiomyopathy 0 0 18 3 0 0 0 21
Primary dilated cardiomyopathy 0 0 11 2 1 0 0 14
Atrial septal defect 3 1 0 10 0 1 0 0 12
Familial hypertrophic cardiomyopathy 1 1 0 8 0 0 0 0 9
Familial hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Familial hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 0 0 8 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
Inborn genetic diseases 1 1 4 0 0 0 0 6
Dilated cardiomyopathy 1EE 3 0 1 0 1 0 0 5
Primary familial dilated cardiomyopathy 1 0 4 0 0 0 0 5
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
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; Cardiomyopathy, left ventricular noncompaction 0 0 0 1 0 0 0 1
Cardiac arrest 0 0 1 0 0 0 0 1
Cardiomyopathy, left ventricular noncompaction; Aborted sudden cardiac death 0 0 1 0 0 0 0 1
Congenital heart defects 1 0 0 0 0 0 0 1
Congestive heart failure 0 0 1 0 0 0 0 1
Dilated cardiomyopathy 1EE; Familial hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 0 0 1 0 0 0 0 1
Familial hypertrophic cardiomyopathy 14; Sudden cardiac death 0 1 0 0 0 0 0 1
Heart disease 0 0 1 0 0 0 0 1
Heart, malformation of 0 1 0 0 0 0 0 1
Hypertrophic cardiomyopathy; Chest pain 0 0 1 0 0 0 0 1
Left ventricular noncompaction 1 0 0 1 0 0 0 0 1
Long QT syndrome 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
Sick sinus syndrome 3, susceptibility to 0 0 0 0 0 1 0 1
Ventricular fibrillation 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 0 0 391 219 65 0 0 675
GeneDx 0 2 42 113 41 0 0 198
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 82 59 46 0 2 189
Ambry Genetics 1 1 78 63 30 0 0 173
Integrated Genetics/Laboratory Corporation of America 0 0 26 17 45 0 0 88
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 30 29 28 0 0 87
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 1 0 36 9 11 0 0 57
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 12 9 26 0 0 47
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 31 12 0 0 0 44
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 20 6 7 0 0 33
PreventionGenetics, PreventionGenetics 0 0 0 1 26 0 0 27
Blueprint Genetics 0 0 19 2 1 0 0 22
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 10 5 4 0 0 19
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 1 2 7 5 0 0 15
Baylor Genetics 1 0 9 0 0 0 0 10
OMIM 7 0 0 0 0 1 0 8
Fulgent Genetics,Fulgent Genetics 0 0 8 0 0 0 0 8
Illumina Clinical Services Laboratory,Illumina 0 0 7 1 0 0 0 8
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 1 0 4 2 0 0 0 7
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 7 0 0 0 0 7
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 6 0 0 0 0 6
Center for Human Genetics,University of Leuven 0 0 5 0 0 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 5 0 0 0 0 5
Genetics and Genomics Program,Sidra Medicine 0 0 5 0 0 0 0 5
Mendelics 0 0 3 0 1 0 0 4
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 3 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 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
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 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
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 0 1
Developmental Genetics Unit,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
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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 0 1
Institute of Molecular Biology and Genetics, Federal Almazov North-West Medical Research Centre 0 0 1 0 0 0 0 1
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia 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
New York Genome Center 0 0 1 0 0 0 0 1

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