ClinVar Miner

Variants in gene MYLK

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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
17 13 597 399 95 1 963

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Aortic aneurysm, familial thoracic 7 14 8 449 232 69 1 708
not specified 0 0 23 139 62 0 201
not provided 1 1 76 98 10 0 186
Cardiovascular phenotype 0 0 70 62 32 0 164
Familial thoracic aortic aneurysm and aortic dissection 0 2 73 29 17 0 117
none provided 0 0 9 8 21 0 38
Connective tissue disease 0 0 10 27 0 0 37
Familial thoracic aortic aneurysm 0 0 1 1 0 0 2
Visceral myopathy 2 0 0 0 0 0 2
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 0 0 1 0 0 0 1
Atrial septal defect 0 0 1 0 0 0 1
Familial abdominal aortic aneurysm 1 0 0 0 1 0 0 1
Familial aortic aneurysms 0 0 1 0 0 0 1
Familial thoracic aortic aneurysm and aortic dissection; Disproportionate tall stature 0 0 1 0 0 0 1
Familial thoracic aortic aneurysm and aortic dissection; Marfanoid habitus 0 0 1 0 0 0 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
See cases 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 7 4 345 231 46 0 633
Illumina Clinical Services Laboratory,Illumina 0 0 150 40 29 0 218
GeneDx 1 0 41 123 45 0 210
Ambry Genetics 0 0 70 62 32 0 164
Integrated Genetics/Laboratory Corporation of America 0 0 11 25 51 0 87
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 22 20 32 0 74
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 32 21 17 0 70
PreventionGenetics, PreventionGenetics 0 0 0 22 32 0 54
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 25 15 0 0 41
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 0 10 27 0 0 37
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 3 3 28 0 34
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 13 3 11 0 27
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 8 0 0 0 8
Fulgent Genetics,Fulgent Genetics 0 0 7 0 0 0 7
Blueprint Genetics 0 0 6 1 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 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
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
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 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
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 0 2
Institute of Human Genetics,Cologne University 0 0 1 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Lineagen, Inc 0 0 1 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 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
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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 1 0 0 0 1
Department of Vascular Biology,Beijing Anzhen Hospital 0 1 0 0 0 0 1

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