ClinVar Miner

Variants studied for osteogenesis imperfecta type 6

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 total
14 10 40 5 13 80

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
SERPINF1 12 10 34 4 11 70
LOC130059891, SERPINF1 1 0 2 1 2 5
LOC130059892, SERPINF1 1 0 4 0 0 5

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 30 3 8 41
Medical Molecular Genetics Department, National Research Center 2 2 0 0 9 13
OMIM 6 0 0 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 2 1 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 1 1 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 2 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 1 0 0 3
3billion 1 2 0 0 0 3
Revvity Omics, Revvity 0 0 2 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
Baylor Genetics 0 0 1 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 1
Mendelics 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 1
GenePathDx, GenePath diagnostics 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University 1 0 0 0 0 1
Suma Genomics 0 0 1 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 1

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