ClinVar Miner

Variants in gene COL18A1

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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
62 42 873 744 204 1 1821

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 50 31 801 703 198 0 1764
Knobloch syndrome 12 4 84 8 43 0 151
COL18A1-related condition 0 0 8 76 10 0 94
Inborn genetic diseases 0 0 62 11 0 0 73
not specified 0 0 20 7 32 0 59
Glaucoma, primary closed-angle 3 1 2 0 8 0 14
Glaucoma, primary closed-angle; Knobloch syndrome 1 0 0 6 3 1 0 10
Knobloch syndrome 1 4 1 2 0 0 1 8
Retinal dystrophy 0 5 0 0 0 0 5
early onset and severe retinal dystrophy 4 0 0 0 0 0 4
COL18A1-related disorders 1 0 0 0 0 0 1
Cataract; Nystagmus; Retinal dystrophy; High myopia 0 1 0 0 0 0 1
Retinitis pigmentosa 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 47 25 783 683 93 0 1631
GeneDx 3 0 22 2 124 0 151
Illumina Laboratory Services, Illumina 0 0 79 8 35 0 122
PreventionGenetics, part of Exact Sciences 0 0 8 78 28 0 114
Ambry Genetics 0 0 62 11 0 0 73
CeGaT Center for Human Genetics Tuebingen 1 0 5 15 1 0 22
Athena Diagnostics Inc 0 1 9 2 8 0 20
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 7 0 0 0 7
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
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
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
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 1 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
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 0 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & 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
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

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