ClinVar Miner

Variants studied for Osteogenesis imperfecta type I

Coded as:
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
967 160 570 983 171 1 2818

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 843 140 535 933 164 0 2584
COL1A1, LOC126862586 82 10 31 50 7 0 177
COL1A2 38 10 0 0 0 1 49
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: 71
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 812 84 543 979 164 0 2582
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 89 5 0 0 0 0 94
Department of Medical Sciences, Uppsala University 64 1 0 0 0 0 65
Laboratory of Genetic Skeletal Anomaly, Seoul National University Children's Hospital 27 2 5 1 0 0 35
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 7 3 7 2 0 0 19
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 16 0 2 0 0 0 18
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 15 3 0 0 0 0 18
3billion 14 1 2 0 0 0 17
Baylor Genetics 4 6 3 0 1 0 14
Mendelics 11 0 1 2 0 0 14
Molecular Genetics laboratory, Necker Hospital 0 14 0 0 0 0 14
Clinical Genetics and Genomics, Karolinska University Hospital 8 3 0 0 0 0 11
Genome-Nilou Lab 0 0 0 0 9 0 9
Institute of Human Genetics, Cologne University 6 3 0 0 0 0 9
Institute of Human Genetics, University of Leipzig Medical Center 3 4 1 0 0 0 8
Autoinflammatory diseases unit, CHU de Montpellier 6 1 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
OMIM 7 0 0 0 0 0 7
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 4 0 0 0 0 6
MGZ Medical Genetics Center 5 1 0 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 2 2 1 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 0 0 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 1 2 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 1 1 1 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
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 1 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 2 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 2 0 0 0 0 2
Department of Human Genetics, Medical Research Institute, Alexandria University 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
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 1 1 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 0 2
MVZ Martinsried, Medicover Genetics 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
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 2
Rare Disease Group, Clinical Genetics, Karolinska Institutet 2 0 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 0 0 0 0 0 2
Breda Genetics srl, Breda Genetics srl 1 0 0 0 0 0 1
Center 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
Centre of Medical Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
Department of Genetics, Beijing BioBiggen Technology Co., Ltd. 1 0 0 0 0 0 1
Department of Human Genetics, University Hospital Bern, Inselspital 0 0 1 0 0 0 1
Department of Medical and Surgical Sciences, University of Bologna 1 0 0 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Key Laboratory of Endocrinology, Affiliated Hospital of Jining Medical University 1 0 0 0 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 1 0 0 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 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
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 1 0 0 0 0 0 1
Paediatric Orthopaedics Research Lab, Christian Medical College 1 0 0 0 0 0 1
Prenatal Diagnosis Unit, University Medical Center at Ho Chi Minh City, University of Medicine and Pharmacy at Ho Chi Minh City 0 0 1 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 1

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