ClinVar Miner

Variants studied for osteogenesis imperfecta type 5

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
3 2 2 1 3 9

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 total
IFITM5 2 1 2 1 3 8
IFITM5, PGGHG 1 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 1 2 4
OMIM 3 0 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 2
Mendelics 1 0 0 0 1 2
Fulgent Genetics, Fulgent Genetics 1 0 1 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 1 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
3billion, Medical Genetics 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 1

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