ClinVar Miner

Variants studied for Stickler syndrome

Included ClinVar conditions (22):
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
102 71 257 78 71 14 578

Gene and significance breakdown #

Total genes and gene combinations: 14
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL2A1 78 46 95 34 36 5 284
COL11A1 9 18 125 37 34 5 225
COL9A1 4 3 18 3 0 1 28
COL9A2 2 2 11 3 1 2 20
COL9A3 7 0 1 0 0 0 8
COL11A1, LOC126805814 0 0 5 0 0 0 5
ALMS1 0 1 0 0 0 0 1
CDH23 0 0 1 0 0 0 1
COL11A1, RNPC3 0 1 0 0 0 0 1
COL4A3, MFF-DT 0 0 1 0 0 0 1
COL9A1, LOC129996692 0 0 0 0 0 1 1
COL9A3, LOC126863084 1 0 0 0 0 0 1
LOXHD1 0 0 0 1 0 0 1
LOXL3 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 70
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 3 1 168 58 53 0 283
Fulgent Genetics, Fulgent Genetics 6 3 35 19 6 0 69
OMIM 31 0 0 0 0 0 31
Mendelics 11 9 1 0 3 0 24
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 10 2 5 0 0 0 17
Genome-Nilou Lab 0 0 0 0 16 0 16
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 3 7 1 0 0 13
Center for Human Genetics, Inc, Center for Human Genetics, Inc 4 4 2 0 0 0 10
MGZ Medical Genetics Center 1 4 5 0 0 0 10
3billion 3 4 3 0 0 0 10
Baylor Genetics 3 2 3 0 0 0 8
Genetics and Molecular Pathology, SA Pathology 1 3 3 0 0 0 7
GenomeConnect, ClinGen 0 0 0 0 0 7 7
Center of Medical Genetics, Central South University 2 2 1 1 1 0 7
Laboratory of Functional Genomics, Research Centre for Medical Genetics 1 3 2 0 0 0 6
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 3 2 1 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 1 0 5 0 0 0 6
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 3 2 0 0 0 0 5
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 4 1 0 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 1 0 0 0 0 4
GeneReviews 0 0 0 0 0 4 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 3 0 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 1 1 2 0 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 0 0 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 1 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 1 1 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 2 1 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 0 1 1 0 1 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 0 0 0 2
Molecular Genetics Laboratory, Institute for Ophthalmic Research 1 1 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Center for Medical Genetics Ghent, University of Ghent 2 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 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
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 2 0 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
DBGen Ocular Genomics 2 0 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 1 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 0 0 1 0 0 1
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
DASA 0 1 0 0 0 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 1 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.