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
6 9 288 302 111 3 608

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 1 4 76 152 76 0 291
Aortic aneurysm, familial thoracic 4 5 1 121 36 21 1 175
Thoracic aortic aneurysm and aortic dissection 0 3 89 68 40 0 158
not specified 0 0 14 103 47 0 155
Cardiovascular phenotype 2 0 52 57 14 0 125
Connective tissue disorder 0 0 4 18 0 0 22
Familial aortopathy 0 0 0 0 4 0 4
Inborn genetic diseases 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 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 1 112 131 36 0 280
GeneDx 1 4 50 117 84 0 256
Ambry Genetics 2 0 55 57 15 0 129
Color 0 0 36 43 34 0 113
Illumina Clinical Services Laboratory,Illumina 0 0 48 17 0 0 65
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 8 8 18 0 34
Integrated Genetics/Laboratory Corporation of America 0 0 8 4 20 0 32
PreventionGenetics,PreventionGenetics 0 0 0 13 16 0 29
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 16 10 0 0 26
Center for Human Genetics, Inc 0 0 6 19 0 0 25
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 7 7 7 0 21
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
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 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
GenomeConnect, ClinGen 0 0 0 0 0 2 2
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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1

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