ClinVar Miner

Variants studied for Osteogenesis imperfecta, perinatal lethal

Coded as:
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 total
85 42 3 2 13 144

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
COL1A1 48 19 1 2 9 79
COL1A2 36 23 2 0 4 64
COL1A1, LOC126862586 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 46 0 0 0 0 46
Genome-Nilou Lab 0 0 0 0 13 13
Genomics England Pilot Project, Genomics England 3 6 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 4 1 0 0 8
Istanbul Faculty of Medicine, Istanbul University 4 3 0 0 0 7
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 2 4 0 0 0 6
Institute of Human Genetics, Cologne University 2 4 0 0 0 6
Mendelics 4 1 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 2 1 2 0 0 5
Autoinflammatory diseases unit, CHU de Montpellier 1 3 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 3 0 0 0 4
MGZ Medical Genetics Center 1 2 0 0 0 3
3billion 2 1 0 0 0 3
Clinical Genetics and Genomics, Karolinska University Hospital 2 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 2
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 0 0 2 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 1
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 0 1 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 0 1 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 1 0 0 0 0 1
Rare Disease Genomics Lab, Stellenbosch Faculty of Medicine 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 1
Genetic Laboratory, Lianyungang Maternal and Child Health Hospital Affiliated to Kangda College of Nanjing Medical University 1 0 0 0 0 1

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