ClinVar Miner

Variants studied for Stickler syndrome type 1

Coded as:
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
65 40 85 26 33 2 245

Gene and significance breakdown #

Total genes and gene combinations: 1
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL2A1 65 40 85 26 33 2 245

Submitter and significance breakdown #

Total submitters: 38
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 2 0 67 24 29 0 122
Mendelics 11 9 1 0 3 0 24
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 9 1 2 0 0 0 12
OMIM 10 0 0 0 0 0 10
Center for Human Genetics, Inc, Center for Human Genetics, Inc 4 4 1 0 0 0 9
Center of Medical Genetics, Central South University 2 2 1 1 1 0 7
MGZ Medical Genetics Center 1 4 1 0 0 0 6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 5 0 0 0 6
Laboratory of Functional Genomics, Research Centre for Medical Genetics 1 3 2 0 0 0 6
Baylor Genetics 3 0 1 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 1 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 3 0 0 0 0 4
3billion 1 3 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 1 1 0 0 0 3
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 2 1 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 0 2 0 0 0 3
GeneReviews 0 0 0 0 0 2 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 1 1 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 2
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 2 0 0 0 0 0 2
DBGen Ocular Genomics 2 0 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 1 1 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 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
MVZ Praenatalmedizin und Genetik Nuernberg 0 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 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
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 1 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 1
Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University 1 0 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.