ClinVar Miner

Variants in gene MYH11

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Minimum submission review status: Collection method:
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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 not provided total
6 9 255 223 66 2 464

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Aortic aneurysm, familial thoracic 4 5 0 102 81 28 1 204
Thoracic aortic aneurysm and aortic dissection 0 3 89 68 40 0 158
not specified 0 0 12 103 48 0 153
Cardiovascular phenotype 2 0 54 55 14 0 125
not provided 1 4 61 4 13 0 81
Connective tissue disorder 0 0 4 18 0 0 22
Familial aortopathy 0 1 0 0 4 0 5
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
Altered myosin contractile function 0 0 0 1 0 0 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
Visceral myopathy 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 0 96 68 25 0 189
GeneDx 1 4 50 87 44 0 186
Ambry Genetics 2 0 57 55 15 0 129
Color 0 0 36 43 34 0 113
Illumina Clinical Services Laboratory,Illumina 0 0 48 17 0 0 65
Integrated Genetics/Laboratory Corporation of America 0 1 8 3 20 0 32
PreventionGenetics 0 0 0 13 16 0 29
Center for Human Genetics, Inc 0 0 6 19 0 0 25
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 4 6 13 0 23
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 7 7 7 0 21
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
Blueprint Genetics, 0 1 4 0 2 0 7
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 5 0 0 0 5
CSER_CC_NCGL; University of Washington Medical Center 0 0 2 2 0 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 4 0 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 0 0 2 0 0 0 2
Molecular Diagnostics Laboratory,Hospital Sainte-Justine 0 1 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 0 1 0 0 0 0 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
GenomeConnect, ClinGen 0 0 0 0 0 1 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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