ClinVar Miner

Variants in gene COL18A1

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Minimum submission review status: Collection method:
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Gene type:

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
81 54 861 977 205 82 2104

Condition and significance breakdown #

Total conditions: 36
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 69 40 749 927 198 0 1946
Inborn genetic diseases 0 0 176 27 0 0 203
Knobloch syndrome 12 5 82 7 43 0 149
COL18A1-related disorder 1 0 20 92 12 0 125
not specified 0 0 35 22 35 0 89
Nonpapillary renal cell carcinoma 0 0 0 0 0 20 20
Knobloch syndrome 1 7 3 4 2 0 1 17
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
Ovarian serous cystadenocarcinoma 0 0 0 0 0 12 12
Familial cancer of breast 0 0 0 0 0 11 11
Cervical cancer 0 0 0 0 0 10 10
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 8 8
Uterine corpus endometrial carcinoma 0 0 0 0 0 8 8
Sarcoma 0 0 0 0 0 6 6
Hepatocellular carcinoma 0 0 0 0 0 5 5
Lung cancer 0 0 0 0 0 5 5
Retinal dystrophy 0 5 0 0 0 0 5
Malignant tumor of esophagus 0 0 0 0 0 4 4
Melanoma 0 0 0 0 0 4 4
Uterine carcinosarcoma 0 0 0 0 0 4 4
early onset and severe retinal dystrophy 4 0 0 0 0 0 4
Clear cell carcinoma of kidney 0 0 0 0 0 3 3
Colon adenocarcinoma 0 0 0 0 0 3 3
Gastric cancer 0 0 0 0 0 3 3
Ocular motility disease 0 0 2 0 0 0 2
Retinal disorder 1 1 0 0 0 0 2
Acute myeloid leukemia 0 0 0 0 0 1 1
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
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 1 1
Retinitis pigmentosa 0 1 0 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Thymoma 0 0 0 0 0 1 1
Uveal melanoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 60
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 65 33 721 886 93 0 1798
Ambry Genetics 0 0 176 27 0 0 203
GeneDx 3 1 36 2 124 0 166
PreventionGenetics, part of Exact Sciences 0 0 20 94 30 0 144
Breakthrough Genomics, Breakthrough Genomics 0 0 7 15 106 0 128
Illumina Laboratory Services, Illumina 0 0 77 7 35 0 119
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 81 81
CeGaT Center for Human Genetics Tuebingen 2 1 10 45 2 0 60
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 22 15 2 0 42
Athena Diagnostics 0 1 9 2 10 0 22
Fulgent Genetics, Fulgent Genetics 0 0 7 3 1 0 11
Genetic Services Laboratory, University of Chicago 1 1 2 1 6 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
Gharavi Laboratory, Columbia University 0 0 6 0 0 0 6
OMIM 6 0 0 0 0 0 6
Revvity Omics, Revvity 1 3 2 0 0 0 6
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
Mendelics 2 0 0 0 3 0 5
Clinical Genetics, Academic Medical Center 0 0 0 1 3 0 4
Laboratory of Genetics in Ophthalmology, Institut Imagine 4 0 0 0 0 0 4
MGZ Medical Genetics Center 2 0 2 0 0 0 4
NIHR Bioresource Rare Diseases, University of Cambridge 0 4 0 0 0 0 4
New York Genome Center 0 1 3 0 0 0 4
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 1 0 0 0 3
3billion 0 0 0 2 0 0 2
Bionano Laboratories 0 0 2 0 0 0 2
Blueprint Genetics 0 2 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 0 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 1 1 0 0 0 0 2
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 1 1 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 1 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 1 0 0 0 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 1 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Dasa 1 0 0 0 0 0 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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Eurofins Ntd Llc (ga) 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 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
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 0 1 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 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
Sharon lab, Hadassah-Hebrew University Medical Center 1 0 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 0 1

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