ClinVar Miner

Variants studied for Stickler syndrome type 1

Included ClinVar conditions (11):
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
83 49 101 34 36 5 298

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL2A1 83 49 101 34 36 5 298

Submitter and significance breakdown #

Total submitters: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 2 0 67 24 29 0 122
Fulgent Genetics, Fulgent Genetics 5 0 7 11 3 0 26
Mendelics 11 9 1 0 3 0 24
OMIM 18 0 0 0 0 0 18
Juno Genomics, Hangzhou Juno Genomics, Inc 7 4 4 0 0 0 15
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 10 2 2 0 0 0 14
Center for Human Genetics, Inc, Center for Human Genetics, Inc 4 4 1 0 0 0 9
MGZ Medical Genetics Center 1 4 2 0 0 0 7
Center of Medical Genetics, Central South University 2 2 1 1 1 0 7
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
3billion 2 3 1 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
Neuberg Centre For Genomic Medicine, NCGM 1 0 3 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 1 1 1 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 1 2 0 0 0 0 3
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 2 1 0 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
Miami Human Genetics, University Of Miami Miller School Of Medicine 1 0 1 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
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
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 1 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 1 1 0 0 0 2
MVZ Medizinische Genetik Mainz 1 0 1 0 0 0 2
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
Mayo Clinic Laboratories, Mayo Clinic 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 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
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

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