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
33 26 881 856 178 4 1788

Condition and significance breakdown #

Total conditions: 27
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Aortic aneurysm, familial thoracic 4 26 13 466 563 61 1 1074
Familial thoracic aortic aneurysm and aortic dissection 1 4 537 438 52 1 980
not provided 3 10 193 165 114 0 463
not specified 0 0 40 100 65 0 189
Aortic aneurysm, familial thoracic 4; Visceral myopathy 2; Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 0 1 67 8 0 0 76
MYH11-related condition 0 0 6 34 2 0 42
Cardiovascular phenotype 1 0 13 6 10 0 30
Connective tissue disorder 0 0 4 18 0 0 22
Inborn genetic diseases 0 0 15 0 0 0 15
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 7 1 0 0 6 0 14
Visceral myopathy 2 0 0 0 0 6 0 6
Familial aortopathy 0 0 0 0 4 0 4
Congenital aneurysm of ascending aorta 1 0 1 0 0 1 3
Isolated thoracic aortic aneurysm 0 0 3 0 0 0 3
Marfan syndrome 0 0 2 0 0 0 2
Visceral myopathy 1 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
Megacystis, microcolon, hypoperistalsis syndrome 1 0 0 0 0 0 1
Pulmonic stenosis 0 0 1 0 0 0 1
See cases 0 0 1 0 0 0 1
Stroke disorder 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 59
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 21 8 405 551 54 0 1039
Color Diagnostics, LLC DBA Color Health 0 0 406 337 45 0 788
Ambry Genetics 2 0 228 222 15 0 465
GeneDx 1 6 136 167 138 0 448
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 33 34 43 0 112
Illumina Laboratory Services, Illumina 0 0 73 13 13 0 99
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 0 39 36 21 0 96
Fulgent Genetics, Fulgent Genetics 0 1 65 7 0 0 73
PreventionGenetics, part of Exact Sciences 0 0 6 47 18 0 71
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 22 22 21 0 66
CeGaT Center for Human Genetics Tuebingen 2 0 16 37 1 0 56
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 4 20 8 0 32
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 23 9 0 31
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 4 25 1 0 30
AiLife Diagnostics, AiLife Diagnostics 0 3 24 0 0 0 27
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 2 2 10 0 14
Revvity Omics, Revvity 0 0 14 0 0 0 14
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 6 5 0 11
Eurofins Ntd Llc (ga) 0 0 6 1 2 0 9
OMIM 8 0 0 0 0 0 8
Mayo Clinic Laboratories, Mayo Clinic 0 0 8 0 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 0 0 5 1 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 1 0 0 6
Genome-Nilou Lab 0 0 0 0 6 0 6
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 5 0 0 0 5
MGZ Medical Genetics Center 0 0 4 0 0 0 4
CSER _CC_NCGL, University of Washington 0 0 2 2 0 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 2 2 0 0 4
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
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Institute of Human Genetics, University Hospital Muenster 0 0 3 0 0 0 3
Department of Vascular Biology, Beijing Anzhen Hospital 0 0 3 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 2
Mendelics 1 0 0 0 1 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 Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 0 0 0 0 2
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, 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
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 0 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
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 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
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 1
3billion 0 0 1 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1
Heart Medical Centre, First Affiliated Hospital of Gannan Medical University 1 0 0 0 0 0 1
Center for Medical Genetics and Genomics, The Second Affiliated Hospital of Guangxi Medical University 0 1 0 0 0 0 1

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