ClinVar Miner

Variants in gene COL18A1

See also:
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
76 49 832 912 203 1 1955

Condition and significance breakdown #

Total conditions: 13
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 64 36 740 862 198 0 1873
Knobloch syndrome 12 5 83 8 43 0 151
Inborn genetic diseases 0 0 119 20 0 0 139
COL18A1-related disorder 1 0 20 92 12 0 125
not specified 0 0 29 16 33 0 76
Knobloch syndrome 1 7 2 4 2 0 1 16
Hereditary glaucoma, primary closed-angle 3 1 2 0 8 0 14
Hereditary glaucoma, primary closed-angle; Knobloch syndrome 1 0 1 8 4 1 0 14
Retinal dystrophy 0 5 0 0 0 0 5
early onset and severe retinal dystrophy 4 0 0 0 0 0 4
Cataract; Nystagmus; Retinal dystrophy; High myopia 0 1 0 0 0 0 1
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 0 0 1
Retinitis pigmentosa 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 55
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 60 30 715 835 93 0 1733
GeneDx 3 0 31 2 124 0 160
PreventionGenetics, part of Exact Sciences 0 0 20 94 30 0 144
Ambry Genetics 0 0 119 20 0 0 139
Breakthrough Genomics, Breakthrough Genomics 0 0 7 15 106 0 128
Illumina Laboratory Services, Illumina 0 0 78 8 35 0 121
CeGaT Center for Human Genetics Tuebingen 2 1 7 26 2 0 38
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 16 9 1 0 28
Athena Diagnostics 0 1 9 2 10 0 22
Genetic Services Laboratory, University of Chicago 1 1 2 1 6 0 11
Fulgent Genetics, Fulgent Genetics 0 0 7 3 1 0 11
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 4 3 0 8
Genome-Nilou Lab 0 0 0 0 8 0 8
OMIM 6 0 0 0 0 0 6
Revvity Omics, Revvity 1 3 2 0 0 0 6
Gharavi Laboratory, Columbia University 0 0 6 0 0 0 6
Mendelics 2 0 0 0 3 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 5 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 3 1 0 0 5
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 5 0 0 5
MGZ Medical Genetics Center 2 0 2 0 0 0 4
Clinical Genetics, Academic Medical Center 0 0 0 1 3 0 4
NIHR Bioresource Rare Diseases, University of Cambridge 0 4 0 0 0 0 4
Laboratory of Genetics in Ophthalmology, Institut Imagine 4 0 0 0 0 0 4
New York Genome Center 0 1 3 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 1 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 2 0 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 3 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 1 0 0 0 2
Bionano Laboratories 0 0 2 0 0 0 2
Blueprint Genetics 0 2 0 0 0 0 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 1 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 1 0 0 0 0 2
3billion 0 0 0 2 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Eurofins Ntd Llc (ga) 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology 0 0 1 0 0 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 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.