ClinVar Miner

Variants studied for COL2A1-related spondyloepiphyseal dysplasia

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
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
142 103 138 34 37 6 439

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL2A1 141 102 134 34 37 6 433
ALDH18A1 0 0 2 0 0 0 2
CLASP1, RNU4ATAC 1 1 0 0 0 0 2
BNIP1 0 0 1 0 0 0 1
LOXL3 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 80
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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 8 4 12 11 3 0 38
3billion 14 8 10 0 0 0 32
OMIM 32 0 0 0 0 0 32
Mendelics 11 9 1 0 3 0 24
Juno Genomics, Hangzhou Juno Genomics, Inc 10 8 4 0 0 0 22
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 15 5 1 0 0 0 21
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 13 2 3 0 0 0 18
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 2 8 0 0 0 12
Center for Human Genetics, Inc, Center for Human Genetics, Inc 5 4 1 0 0 0 10
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 4 1 0 0 0 9
MGZ Medical Genetics Center 2 5 2 0 0 0 9
Neuberg Centre For Genomic Medicine, NCGM 2 2 5 0 0 0 9
Center of Medical Genetics, Central South University 2 2 1 1 1 0 7
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 6 1 0 0 0 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 4 2 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 2 2 2 0 1 0 7
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 5 2 0 0 0 0 7
Laboratory of Functional Genomics, Research Centre for Medical Genetics 1 3 3 0 0 0 7
Baylor Genetics 4 1 1 0 0 0 6
Clinical Genetics and Genomics, Karolinska University Hospital 3 2 0 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 2 0 0 0 0 5
MVZ Martinsried, Medicover Genetics 0 3 2 0 0 0 5
Genetics and Molecular Pathology, SA Pathology 1 1 2 0 0 0 4
Institute of Human Genetics Munich, TUM University Hospital 4 0 0 0 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 2 0 0 0 4
Variantyx, Inc. 2 2 0 0 0 0 4
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 1 1 0 0 0 3
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 0 2 1 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 2 1 0 0 0 0 3
MVZ Medizinische Genetik Mainz 1 1 1 0 0 0 3
Medical and Scientific Branch, Hong Kong Genome Institute 1 2 0 0 0 0 3
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 2 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 0 0 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 1 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 1 0 0 0 0 2
DBGen Ocular Genomics 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
GeneReviews 0 0 0 0 0 2 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genomic Medicine Lab, University of California San Francisco 1 1 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 1 0 0 0 2
MVZ Praenatalmedizin und Genetik Nuernberg 1 0 0 1 0 0 2
Miami Human Genetics, University Of Miami Miller School Of Medicine 1 0 1 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 0 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 1 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
Undiagnosed Diseases Network, NIH 1 1 0 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 1
Dasa 1 0 0 0 0 0 1
Department of Clinical Genetics, Aarhus University Hospital 1 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University 1 0 0 0 0 0 1
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania 1 0 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Hacettepe Pediatric Genetics Laboratory, Hacettepe University 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 0 0 0 0 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia, Universidade Católica de Brasília 1 0 0 0 0 0 1
Suma Genomics 0 1 0 0 0 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Zankl Lab, University of Sydney 1 0 0 0 0 0 1

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