ClinVar Miner

Variants in gene MYLK

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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
58 40 1604 1093 136 50 2665

Condition and significance breakdown #

Total conditions: 43
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Aortic aneurysm, familial thoracic 7 46 22 1117 848 88 4 2036
Familial thoracic aortic aneurysm and aortic dissection 4 3 781 446 51 0 1255
not provided 4 11 433 202 49 2 657
not specified 0 0 73 167 102 0 302
Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 0 0 116 25 2 1 144
MYLK-related disorder 0 0 29 52 3 0 84
Connective tissue disorder 0 0 10 26 0 0 36
Ovarian serous cystadenocarcinoma 0 0 0 0 0 13 13
Megacystis, microcolon, hypoperistalsis syndrome 1 0 0 0 6 0 7
Uterine corpus endometrial carcinoma 0 0 0 0 0 6 6
Cardiovascular phenotype 0 0 4 0 1 0 5
Lung cancer 0 0 0 0 0 5 5
Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 2 0 2 1 0 0 5
Congenital aneurysm of ascending aorta 0 1 1 1 0 0 3
Familial cancer of breast 0 0 0 0 0 3 3
Sarcoma 0 0 0 0 0 3 3
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 3 3
Acute myeloid leukemia 0 0 0 0 0 2 2
Familial aortopathy 2 0 0 0 0 0 2
Familial thoracic aortic aneurysm and aortic dissection; Disproportionate tall stature 0 0 2 0 0 0 2
Melanoma 0 0 0 0 0 2 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 2 0 0 0 0 2
Squamous cell carcinoma of the head and neck 0 0 0 0 0 2 2
Visceral myopathy 1 2 0 0 0 0 0 2
Aortic aneurysm, familial abdominal, 1 0 0 0 1 0 0 1
Aortic aneurysm, familial thoracic 10 0 0 1 0 0 0 1
Aortic aneurysm, familial thoracic 6 0 0 0 1 0 0 1
Atrial septal defect 0 0 1 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Chronic lymphocytic leukemia/small lymphocytic lymphoma 0 0 0 0 0 1 1
Familial aortic aneurysms 0 0 1 0 0 0 1
Familial thoracic aortic aneurysm and aortic dissection; Megacystis, microcolon, hypoperistalsis syndrome 0 0 0 0 0 1 1
Gastric cancer 0 0 0 0 0 1 1
Isolated thoracic aortic aneurysm 0 1 0 0 0 0 1
Loeys-Dietz syndrome 0 0 1 0 0 0 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Marfan syndrome 0 0 1 0 0 0 1
Megacystis-Microcolon Hypoperistalsis Syndrome 1 1 0 0 0 0 0 1
Pancreatic adenocarcinoma 0 0 0 0 0 1 1
Prostate cancer 0 0 1 0 0 0 1
Uterine carcinosarcoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 85
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 43 14 1022 818 80 0 1977
Ambry Genetics 4 0 741 432 36 0 1213
GeneDx 1 0 334 168 45 0 548
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 64 84 92 0 243
Illumina Laboratory Services, Illumina 0 0 108 32 27 0 167
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 48 53 36 0 137
Fulgent Genetics, Fulgent Genetics 0 0 111 24 2 0 137
PreventionGenetics, part of Exact Sciences 0 0 29 71 34 0 134
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 1 58 42 31 0 132
CeGaT Center for Human Genetics Tuebingen 2 3 42 57 4 0 108
Mayo Clinic Laboratories, Mayo Clinic 0 1 32 17 28 0 78
Breakthrough Genomics, Breakthrough Genomics 0 0 8 25 24 0 57
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 4 18 29 0 51
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 8 13 29 0 50
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 42 42
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 4 20 15 0 39
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 0 10 26 0 0 36
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 4 3 27 0 34
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 3 15 12 0 30
Eurofins Ntd Llc (ga) 0 0 13 3 11 0 27
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 3 2 10 0 15
Revvity Omics, Revvity 0 0 14 0 0 0 14
AiLife Diagnostics, AiLife Diagnostics 0 6 7 0 0 0 13
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 11 1 0 0 12
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 10 0 0 0 10
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 4 0 6 0 10
Phosphorus, Inc. 0 0 3 6 0 0 9
Centre of Medical Genetics, University of Antwerp 0 0 8 0 0 0 8
Blueprint Genetics 0 0 6 1 0 0 7
Genome-Nilou Lab 0 0 0 0 6 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 5 1 0 0 6
CSER _CC_NCGL, University of Washington 0 0 3 2 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 5 0 0 0 5
OMIM 5 0 0 0 0 0 5
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 4 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 2 0 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 4 0 0 4
Baylor Genetics 0 0 3 0 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 2 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 2 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 2 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 3 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 0 0 3 0 0 0 3
Cardiogenetics, Center of Medical Genetics, Antwerp, Belgium 2 0 0 0 0 0 2
Centre for Genomic and Experimental Medicine, University of Edinburgh 0 2 0 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 0 2 0 0 0 2
MGZ Medical Genetics Center 0 0 2 0 0 0 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 0 2 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 2 0 0 0 2
3billion 0 0 0 1 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Dasa 0 0 0 1 0 0 1
Department of Cardiovascular Medicine, The University of Tokyo, Graduate School of Medicine 0 1 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Department of Medical Genetics, Tarbiat Modares University 0 1 0 0 0 0 1
Department of Vascular Biology, Beijing Anzhen Hospital 0 1 0 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 0 1 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Heart Medical Centre, First Affiliated Hospital of Gannan Medical University 0 1 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1
ISCA site 1 0 1 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 0 0 1 0 1
Institute of Human Genetics Munich, TUM University Hospital 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 1 0 0 1
Mendelics 0 0 0 0 1 0 1
New York Genome Center 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 1 0 0 0 0 0 1

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