ClinVar Miner

Variants in gene MYLK

Minimum submission review status: Collection method:
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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
10 12 493 353 83 1 820

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Aortic aneurysm, familial thoracic 7 7 8 340 159 70 1 529
not provided 1 1 75 97 11 0 185
not specified 0 0 13 116 48 0 172
Cardiovascular phenotype 0 0 73 59 32 0 164
Familial thoracic aortic aneurysm and aortic dissection 0 2 77 29 17 0 121
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
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: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 2 4 242 190 46 0 484
Illumina Clinical Services Laboratory,Illumina 0 0 148 39 29 0 215
GeneDx 1 0 41 123 45 0 210
Ambry Genetics 0 0 73 59 32 0 164
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 32 21 17 0 70
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 15 13 30 0 58
PreventionGenetics,PreventionGenetics 0 0 0 22 32 0 54
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 0 10 27 0 0 37
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 22 13 0 0 36
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
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 5 0 0 0 5
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 5 0 5
CSER _CC_NCGL, University of Washington 0 0 3 2 0 0 5
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
Cardiogenetics,Center of Medical Genetics, Antwerp, Belgium 2 0 0 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
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 0 1 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
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

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