ClinVar Miner

Variants studied for Osteogenesis imperfecta type I

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
710 119 418 738 157 1 2121

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 632 101 393 702 151 0 1958
COL1A1, LOC126862586 61 9 21 36 6 0 132
COL1A2 13 9 0 0 0 1 23
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: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 639 68 398 736 150 0 1991
Department of Medical Sciences, Uppsala University 64 1 0 0 0 0 65
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 12 0 2 0 0 0 14
Molecular Genetics laboratory, Necker Hospital 0 14 0 0 0 0 14
Mendelics 10 0 1 2 0 0 13
Baylor Genetics 3 5 3 0 1 0 12
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 4 2 4 1 0 0 11
Institute of Human Genetics, Cologne University 6 3 0 0 0 0 9
Genome-Nilou Lab 0 0 0 0 9 0 9
3billion 6 0 2 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
Institute of Human Genetics, University of Leipzig Medical Center 2 4 1 0 0 0 7
MGZ Medical Genetics Center 5 1 0 0 0 0 6
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 6 0 0 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 1 2 1 0 0 0 4
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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 1 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 1 2 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 2 1 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 1 0 1 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 1 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 1 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 2
Rare Disease Group, Clinical Genetics, Karolinska Institutet 2 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 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
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 1 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 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
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 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
Breda Genetics srl 1 0 0 0 0 0 1
Paediatric Orthopaedics Research Lab, Christian Medical College 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 Human Genetics, Hannover Medical School 0 1 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

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