ClinVar Miner

Variants studied for Glanzmann's thrombasthenia

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
29 4 72 19 9 133

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
ITGA2B 16 2 36 4 3 61
ITGB3, THCAT158 2 0 24 9 2 37
ITGB3 11 2 12 6 4 35

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 69 19 9 97
OMIM 27 0 0 0 0 27
Invitae 1 1 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 2 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 1 0 0 2
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 2 0 0 0 2
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 1

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