ClinVar Miner

Variants studied for osteogenesis imperfecta type 8

Included ClinVar conditions (1):
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 not provided total
95 58 246 401 38 1 804

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
P3H1 92 57 238 395 38 1 786
LOC129930352, P3H1 3 1 8 6 0 0 18

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 87 20 227 392 31 0 757
Genome-Nilou Lab 6 10 49 8 12 0 85
Fulgent Genetics, Fulgent Genetics 10 19 13 2 0 0 44
Illumina Laboratory Services, Illumina 0 0 17 3 16 0 36
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 0 9 8 15 0 34
Neuberg Centre For Genomic Medicine, NCGM 2 5 1 0 0 0 8
OMIM 7 0 0 0 0 0 7
Revvity Omics, Revvity 1 1 2 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 1 0 0 0 3
Institute of Human Genetics, Cologne University 0 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 1 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 1 0 0 0 2
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 1 0 0 0 0 2
Medical Genetics, Spectrum Health 0 2 0 0 0 0 2
3billion, Medical Genetics 0 2 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 1 0 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 1

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