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
74 50 155 21 44 316

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ITGA2B 48 30 80 12 18 170
ITGB3 24 19 38 5 15 92
ITGB3, THCAT158 2 1 36 4 11 53
​intergenic 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 120 18 35 173
ClinGen Platelet Disorders Variant Curation Expert Panel,ClinGen 34 32 32 2 15 115
OMIM 27 0 0 0 0 27
NIHR Bioresource Rare Diseases, University of Cambridge 8 13 5 0 0 26
Invitae 5 2 2 1 9 19
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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1

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