ClinVar Miner

Variants in gene MYLK

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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
31 27 1203 829 123 7 1952

Condition and significance breakdown #

Total conditions: 25
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Aortic aneurysm, familial thoracic 7 29 12 843 660 85 3 1547
Familial thoracic aortic aneurysm and aortic dissection 0 3 460 284 50 0 761
not provided 0 8 304 167 38 2 487
not specified 0 0 48 128 87 0 239
Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 0 0 108 24 2 1 135
MYLK-related condition 0 0 17 46 3 0 66
Inborn genetic diseases 0 0 39 1 0 0 40
Connective tissue disorder 0 0 10 26 0 0 36
Megacystis, microcolon, hypoperistalsis syndrome 1 0 0 0 6 0 7
Congenital aneurysm of ascending aorta 0 1 1 1 0 0 3
Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 1 0 2 0 0 0 3
Familial thoracic aortic aneurysm and aortic dissection; Disproportionate tall stature 0 0 2 0 0 0 2
See cases 0 2 0 0 0 0 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 6 0 0 0 1 0 0 1
Aortic dissection; Carotid artery dissection; Internal carotid artery dissection; Carotid artery occlusion; Stroke disorder 0 0 1 0 0 0 1
Atrial septal defect 0 0 1 0 0 0 1
Cardiovascular phenotype 0 0 0 0 1 0 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
Isolated thoracic aortic aneurysm 0 1 0 0 0 0 1
Loeys-Dietz syndrome 0 0 1 0 0 0 1
Malignant tumor of prostate 0 0 1 0 0 0 1
Marfan syndrome 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 72
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 24 7 751 633 77 0 1492
Ambry Genetics 0 0 430 256 35 0 721
GeneDx 0 0 234 168 45 0 447
Illumina Laboratory Services, Illumina 0 0 142 39 27 0 207
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 39 57 76 0 172
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 1 58 42 31 0 132
Fulgent Genetics, Fulgent Genetics 0 0 107 23 2 0 132
PreventionGenetics, part of Exact Sciences 0 0 17 65 34 0 116
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 30 39 36 0 105
CeGaT Center for Human Genetics Tuebingen 0 2 32 33 2 0 69
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
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 3 3 27 0 33
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
AiLife Diagnostics, AiLife Diagnostics 0 6 7 0 0 0 13
Mayo Clinic Laboratories, Mayo Clinic 0 0 12 0 0 0 12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 11 1 0 0 12
Revvity Omics, Revvity 0 0 11 0 0 0 11
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
Blueprint Genetics 0 0 6 1 0 0 7
Genome-Nilou Lab 0 0 0 0 6 0 6
OMIM 5 0 0 0 0 0 5
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 5 0 0 0 5
CSER _CC_NCGL, University of Washington 0 0 3 2 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 4 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
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 2 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 3 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 2 0 0 0 2
MGZ Medical Genetics Center 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
Centre for Genomic and Experimental Medicine, University of Edinburgh 0 2 0 0 0 0 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 0 1 1 0 2
Cardiogenetics, Center of Medical Genetics, Antwerp, Belgium 2 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 2 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 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
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Clinical Genetics, Erasmus University Medical Center 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 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
Wangler Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 1 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 0 1 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Department of Vascular Biology, Beijing Anzhen Hospital 0 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 0 1 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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1

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