ClinVar Miner

Variants studied for Osteogenesis imperfecta type I

Coded as:
Minimum submission review status: Collection method:
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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
820 139 495 849 165 1 2445

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL1A1 729 122 467 809 159 0 2263
COL1A1, LOC126862586 72 8 24 40 6 0 149
COL1A2 15 9 0 0 0 1 25
COL1A1, LOC126862586, LOC130061152, LOC130061153, LOC130061154 1 0 2 0 0 0 3
ACSF2, COL1A1, EME1, LRRC59, MRPL27, PPP1R9B, SAMD14, SGCA, TMEM92, XYLT2 1 0 0 0 0 0 1
COL1A1, DLX3, ITGA3, PDK2, PPP1R9B, SAMD14, SGCA 1 0 0 0 0 0 1
COL1A1, ITGA3, PDK2, PPP1R9B, SAMD14, SGCA 1 0 0 0 0 0 1
COL1A1, LOC126862586, LOC130061152, LOC130061153 0 0 1 0 0 0 1
COL1A1, LOC130061152 0 0 1 0 0 0 1
COL1A1, SGCA 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 62
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 737 78 475 847 158 0 2295
Department of Medical Sciences, Uppsala University 64 1 0 0 0 0 65
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 15 0 2 0 0 0 17
Baylor Genetics 4 6 3 0 1 0 14
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 6 2 5 1 0 0 14
Molecular Genetics laboratory, Necker Hospital 0 14 0 0 0 0 14
Mendelics 10 0 1 2 0 0 13
3billion 9 1 2 0 0 0 12
Institute of Human Genetics, Cologne University 6 3 0 0 0 0 9
Genome-Nilou Lab 0 0 0 0 9 0 9
Institute of Human Genetics, University of Leipzig Medical Center 3 4 1 0 0 0 8
OMIM 7 0 0 0 0 0 7
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 4 2 1 0 0 0 7
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 7 0 0 0 0 0 7
Autoinflammatory diseases unit, CHU de Montpellier 6 1 0 0 0 0 7
MGZ Medical Genetics Center 5 1 0 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 0 0 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 2 2 1 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 2 0 0 0 0 4
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 3 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 1 1 1 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 1 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 0 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 1 2 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 2 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 2 1 0 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 1 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 1 0 0 0 0 2
Rare Disease Group, Clinical Genetics, Karolinska Institutet 2 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 0 0 0 0 0 2
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 1 1 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 2 0 0 0 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 1 0 0 0 0 2
Genetic Laboratory, Lianyungang Maternal and Child Health Hospital Affiliated to Kangda College of Nanjing Medical University 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 0 0 0 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 1 0 0 0 0 0 1
Breda Genetics srl 1 0 0 0 0 0 1
Paediatric Orthopaedics Research Lab, Christian Medical College 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 1 0 0 0 0 0 1
Medical Genetics Lab, Xi'an People's Hospital(Xi'an Fourth Hospital) 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Department of Genetics, Beijing BioBiggen Technology Co., Ltd. 1 0 0 0 0 0 1
Department of Medical and Surgical Sciences, University of Bologna 1 0 0 0 0 0 1
Key Laboratory of Endocrinology, Affiliated Hospital of Jining Medical University 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1
Department of Human Genetics, University Hospital Bern, Inselspital 0 0 1 0 0 0 1

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