ClinVar Miner

Variants in gene MYH11

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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 not provided total
11 11 527 452 124 4 981

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Familial thoracic aortic aneurysm and aortic dissection 0 3 289 262 52 1 587
Aortic aneurysm, familial thoracic 4 10 3 258 156 49 1 431
not provided 1 4 80 108 48 0 235
not specified 0 0 22 112 56 0 176
Cardiovascular phenotype 2 0 51 58 14 0 125
Connective tissue disease 0 0 4 18 0 0 22
Familial aortopathy 0 0 0 0 4 0 4
Inborn genetic diseases 0 0 4 0 0 0 4
Isolated thoracic aortic aneurysm 0 0 3 0 0 0 3
Familial thoracic aortic aneurysm 0 0 1 0 0 1 2
Marfan syndrome 0 0 2 0 0 0 2
Visceral myopathy 0 2 0 0 0 0 2
Altered myosin contractile function 0 0 0 1 0 0 1
Aortic aneurysm, familial thoracic 4; Congenital aneurysm of ascending aorta 0 0 0 0 0 1 1
Aortic aneurysm, familial thoracic 6 0 0 0 1 0 0 1
Aortic dilatation 0 0 1 0 0 0 1
Bicuspid aortic valve 0 0 1 0 0 0 1
Ehlers-Danlos syndrome, classic type 0 0 1 0 0 0 1
Loeys-Dietz syndrome 0 0 1 0 0 0 1
Pulmonic stenosis (disease) 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Color Health, Inc 0 0 268 254 45 0 567
Invitae 5 2 192 164 36 0 399
GeneDx 1 4 50 115 83 0 253
Ambry Genetics 2 0 55 59 15 0 130
Illumina Clinical Services Laboratory,Illumina 0 0 73 13 13 0 99
Integrated Genetics/Laboratory Corporation of America 0 0 16 14 32 0 62
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 17 11 16 0 44
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 13 10 20 0 43
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 20 19 0 0 39
PreventionGenetics, PreventionGenetics 0 0 0 13 16 0 29
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 0 6 19 0 0 25
Blueprint Genetics 0 1 13 0 2 0 16
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 11 4 0 15
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 2 2 10 0 14
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 12 0 0 12
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 7 4 0 11
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 6 1 2 0 9
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 5 0 0 0 5
CSER _CC_NCGL, University of Washington 0 0 2 2 0 0 4
OMIM 3 0 0 0 0 0 3
Baylor Genetics 0 0 3 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 3 0 0 0 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 3 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 1 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Department of Vascular Biology,Beijing Anzhen Hospital 0 0 3 0 0 0 3
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 0 2 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 1 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Molecular Diagnostics Laboratory,Hospital Sainte-Justine 0 1 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Centre for Genomic and Experimental Medicine,University of Edinburgh 0 1 0 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 0 0 1 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1

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