ClinVar Miner

Variants in gene COL11A1

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 risk factor total
23 19 123 129 102 1 358

Condition and significance breakdown #

Total conditions: 14
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
not provided 10 12 74 2 45 0 143
not specified 0 0 4 78 57 0 132
Marshall syndrome 3 1 42 57 20 0 123
Fibrochondrogenesis 4 0 42 56 20 0 122
Stickler Syndrome, Dominant 0 0 42 56 20 0 118
Connective tissue disorder 0 1 8 22 0 0 31
Stickler syndrome, type 2 5 3 3 0 0 0 11
COL11A1-Related Disorders 0 0 2 0 0 0 2
Inborn genetic diseases 1 1 0 0 0 0 2
Hypertelorism; Telecanthus; Megalocornea; Abnormal facial shape; Myopia; Short nose; Hypoplasia of the maxilla; Cleft palate 0 1 0 0 0 0 1
Lumbar disc herniation, susceptibility to 0 0 0 0 0 1 1
Marshall/Stickler syndrome 1 0 0 0 0 0 1
See cases 1 0 0 0 0 0 1
sporadic abdominal aortic aneurysm 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
GeneDx 6 5 29 65 39 0 144
Illumina Clinical Services Laboratory,Illumina 0 0 44 57 20 0 121
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 6 2 39 4 15 0 66
PreventionGenetics 0 0 0 13 31 0 44
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 40 0 40
Center for Human Genetics, Inc 0 1 9 22 0 0 32
OMIM 10 0 0 0 0 1 11
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 8 1 0 0 11
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 2 0 4
Athena Diagnostics Inc 0 0 0 0 3 0 3
Blueprint Genetics, 0 2 1 0 0 0 3
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 2 0 0 0 0 3
Baylor Miraca Genetics Laboratories, 1 1 0 0 0 0 2
Ambry Genetics 1 1 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 1 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
TilsonLab,Columbia University 1 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1
Laboratory of Medical Genetics,National & Kapodistrian University of Athens 0 0 1 0 0 0 1
Gharavi Laboratory,Columbia University 0 1 0 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.