ClinVar Miner

Variants in gene MYH11

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Gene type:

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
42 36 1389 1144 188 41 2585

Condition and significance breakdown #

Total conditions: 49
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Familial thoracic aortic aneurysm and aortic dissection 2 5 1017 680 56 1 1688
Aortic aneurysm, familial thoracic 4 34 19 639 744 63 1 1442
not provided 3 13 296 191 118 0 592
not specified 0 0 53 135 78 0 241
Aortic aneurysm, familial thoracic 4; Visceral myopathy 2; Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 0 2 72 8 0 0 82
MYH11-related disorder 0 0 9 36 2 0 47
Cardiovascular phenotype 0 0 10 6 9 0 25
Connective tissue disorder 0 0 5 18 0 0 23
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 7 2 3 1 7 0 19
Ovarian serous cystadenocarcinoma 0 0 0 0 0 13 13
Visceral myopathy 2 0 0 1 0 7 0 8
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 6 6
Familial cancer of breast 0 0 0 0 0 5 5
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
Thymoma 0 0 0 0 0 3 3
Uterine corpus endometrial carcinoma 0 0 0 0 0 3 3
Aortic aneurysm, familial thoracic 4; Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 0 0 1 0 0 1 2
Cholangiocarcinoma 0 0 0 0 0 2 2
Hepatocellular carcinoma 0 0 0 0 0 2 2
Inborn genetic diseases 0 0 2 0 0 0 2
Lung cancer 0 0 0 0 0 2 2
Malignant tumor of esophagus 0 0 0 0 0 2 2
Marfan syndrome 0 0 2 0 0 0 2
Nonpapillary renal cell carcinoma 0 0 0 0 0 2 2
Papillary renal cell carcinoma type 1 0 0 0 0 0 2 2
See cases 0 0 2 0 0 0 2
Visceral myopathy 1 0 2 0 0 0 0 2
Acute myeloid leukemia 0 0 0 0 0 1 1
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
Cervical cancer 0 0 0 0 0 1 1
Colon adenocarcinoma 0 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 0 1 1
Ehlers-Danlos syndrome, classic type 0 0 1 0 0 0 1
Joint hypermobility 0 0 1 0 0 0 1
Loeys-Dietz syndrome 0 0 1 0 0 0 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Megacystis, microcolon, hypoperistalsis syndrome 1 0 0 0 0 0 1
Pulmonic stenosis 0 0 1 0 0 0 1
Sarcoma 0 0 0 0 0 1 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Uterine carcinosarcoma 0 0 0 0 0 1 1
Uveal melanoma 0 0 0 0 0 1 1
Yolk sac tumor 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 77
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 29 13 579 733 56 0 1410
Color Diagnostics, LLC DBA Color Health 0 0 553 457 49 0 1059
All of Us Research Program, National Institutes of Health 0 1 496 302 33 0 832
Ambry Genetics 2 2 421 327 15 0 767
GeneDx 0 8 231 166 139 0 544
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 47 53 52 0 154
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 0 39 36 22 0 97
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 30 35 23 0 89
CeGaT Center for Human Genetics Tuebingen 3 0 27 57 2 0 89
Illumina Laboratory Services, Illumina 0 0 59 10 14 0 83
PreventionGenetics, part of Exact Sciences 0 0 9 49 19 0 77
Fulgent Genetics, Fulgent Genetics 0 1 68 7 0 0 76
Breakthrough Genomics, Breakthrough Genomics 0 0 2 27 45 0 74
Mayo Clinic Laboratories, Mayo Clinic 0 0 15 14 21 0 50
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 1 17 20 0 38
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 36 36
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 4 2 11 0 17
Blueprint Genetics 0 1 13 0 2 0 16
Revvity Omics, Revvity 0 0 15 0 0 0 15
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 6 5 0 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 10 0 0 0 10
Eurofins Ntd Llc (ga) 0 0 6 1 2 0 9
OMIM 8 0 0 0 0 0 8
Genome-Nilou Lab 0 0 0 0 7 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 1 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 0 0 5 1 0 0 6
Centre of Medical Genetics, University of Antwerp 0 0 5 0 0 0 5
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
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 2 2 0 0 4
MGZ Medical Genetics Center 0 0 4 0 0 0 4
Baylor Genetics 0 0 3 0 0 0 3
Centre of Medical Genetics, University Hospital Muenster 0 0 3 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 0 3
Department of Vascular Biology, Beijing Anzhen Hospital 0 0 3 0 0 0 3
Genetic Services Laboratory, University of Chicago 2 1 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 3 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 1 0 0 0 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 3 0 0 0 3
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 3 0 0 3
3billion 0 0 1 1 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 2
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf 0 2 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 1 0 0 0 2
Mendelics 1 0 0 0 1 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 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
Centre for Genomic and Experimental Medicine, University of Edinburgh 0 1 0 0 0 0 1
Centro Nacional de Genética Medica, Administración Nacional de Laboratorios e Institutos de Salud (ANLIS) “Dr. Carlos G Malbrán” 1 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Dasa 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Heart Medical Centre, First Affiliated Hospital of Gannan Medical University 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1
KardioGenetik, Herz- und Diabeteszentrum NRW 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, Hospital Sainte-Justine 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Newman Lab, University of Manchester 0 0 1 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 1 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 1

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