ClinVar Miner

Variants in gene MYLK

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
7 10 376 266 66 1 620

Condition and significance breakdown #

Total conditions: 19
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Aortic aneurysm, familial thoracic 7 4 7 173 85 45 1 310
Thoracic aortic aneurysm and aortic dissection 0 2 124 52 5 0 177
not specified 0 0 13 116 48 0 172
Cardiovascular phenotype 0 0 75 57 32 0 164
not provided 1 0 65 11 19 0 96
Connective tissue disorder 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
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
Thoracic aortic aneurysm and aortic dissection; Disproportionate tall stature 0 0 1 0 0 0 1
Thoracic aortic aneurysm and aortic dissection; Marfanoid habitus 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 36
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 4 163 84 39 0 290
GeneDx 1 0 41 105 45 0 192
Ambry Genetics 0 0 75 57 32 0 164
Illumina Clinical Services Laboratory,Illumina 0 0 100 42 0 0 141
PreventionGenetics 0 0 0 22 32 0 54
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 14 9 21 0 44
Center for Human Genetics, Inc 0 0 10 27 0 0 37
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 21 10 5 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 12 6 0 0 18
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 8 0 0 0 8
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
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 Medical Center 0 0 3 2 0 0 5
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 3 0 0 0 3
OMIM 2 0 0 0 0 0 2
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
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
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.