ClinVar Miner

Variants studied for Glanzmann thrombasthenia 2

Included ClinVar conditions (2):
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
19 5 5 0 0 29

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
ITGB3 15 4 5 24
EFCAB13-DT, ITGB3 2 0 0 2
ITGB3, LOC130061043 0 1 0 1
ITGB3, LOC130061044 1 0 0 1
ITGB3, LOC130061045 1 0 0 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 13 0 0 13
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 2 2 3 7
3billion 2 0 1 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 1 0 2
Fulgent Genetics, Fulgent Genetics 0 0 1 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 1

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