ClinVar Miner

Variants in gene MYH6

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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
10 6 404 258 89 1 2 629

Condition and significance breakdown #

Total conditions: 36
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Familial hypertrophic cardiomyopathy 14 2 0 144 97 59 0 0 299
not specified 0 0 94 134 70 0 2 276
Cardiovascular phenotype 0 0 83 56 28 0 0 167
Hypertrophic cardiomyopathy 0 0 78 28 0 0 0 106
Atrial septal defect 0 0 70 28 0 0 0 98
Dilated Cardiomyopathy, Dominant 0 0 70 28 0 0 0 98
not provided 0 3 77 7 6 0 0 92
Cardiomyopathy 0 0 28 23 22 0 0 72
Primary familial hypertrophic cardiomyopathy 0 0 15 2 1 0 0 18
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
Primary dilated cardiomyopathy 0 0 6 1 0 0 0 7
Inborn genetic diseases 0 1 5 0 0 0 0 6
Dilated cardiomyopathy 1EE 3 0 1 0 1 0 0 5
Atrial septal defect 3 1 0 1 0 1 0 0 3
Familial dilated cardiomyopathy 1 0 2 0 0 0 0 3
Familial hypertrophic cardiomyopathy 1 1 0 1 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 cardiomyopathy, type 9 0 0 1 0 0 0 0 1
Cardiac arrest 0 0 1 0 0 0 0 1
Congenital heart defects 1 0 0 0 0 0 0 1
Dilated cardiomyopathy 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
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
Prolonged QT interval 0 0 1 0 0 0 0 1
Restrictive cardiomyopathy 0 0 1 0 0 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: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 0 0 142 97 58 0 0 297
GeneDx 0 2 42 102 41 0 0 187
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 83 55 46 0 2 186
Ambry Genetics 0 1 88 56 28 0 0 173
Illumina Clinical Services Laboratory,Illumina 0 0 72 28 0 0 0 100
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 27 19 19 0 0 65
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 20 6 7 0 0 33
Integrated Genetics/Laboratory Corporation of America 0 0 10 10 11 0 0 31
PreventionGenetics 0 0 0 1 26 0 0 27
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 1 0 13 3 8 0 0 25
Blueprint Genetics, 0 0 19 2 1 0 0 22
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 10 5 4 0 0 19
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 3 3 3 0 0 9
OMIM 7 0 0 0 0 1 0 8
Fulgent Genetics 0 0 8 0 0 0 0 8
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 7 0 0 0 0 7
Center for Human Genetics,University of Leuven 0 0 5 0 0 0 0 5
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 3 0 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 3 0 0 0 0 3
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 1 0 1 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 1 1 0 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 0 1
Division of Genomic Diagnostics,The 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
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
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
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 0 0 1
Phosphorus, Inc. 0 0 0 0 1 0 0 1

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