Variants studied for Glanzmann thrombasthenia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
249	160	417	221	63	1023

Gene and significance breakdown #

Total genes and gene combinations: 10

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
ITGA2B	150	98	294	190	31	705
ITGB3	82	49	68	20	19	216
EFCAB13-DT, ITGB3	4	4	40	7	11	63
ITGA2B, LOC130060983	5	3	5	4	1	14
ITGB3, LOC130061043	1	3	2	0	0	6
ITGB3, LOC130061044	4	2	0	0	0	6
ITGB3, LOC130061045	3	1	2	0	0	6
ITGB3, LOC130061041	0	0	3	0	1	4
ITGB3, LOC110121475	0	0	2	0	0	2
intergenic	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen	229	137	153	45	37	601
Labcorp Genetics (formerly Invitae), Labcorp	21	7	192	172	29	421
Illumina Laboratory Services, Illumina	0	0	117	18	35	170
NIHR Bioresource Rare Diseases, University of Cambridge	7	13	5	0	0	25
Departement d'Immunology Plaquettaire, Institut National de la Transfusion Sanguine	7	1	1	0	0	9
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	1	3	0	0	0	4
Baylor Genetics	1	1	0	0	0	2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	0	2	0	0	0	2
UCLA Clinical Genomics Center, UCLA	1	0	0	0	0	1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	1	0	0	0	1
Department of Pathology and Laboratory Medicine, Sinai Health System	0	1	0	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	1	0	0	0	1
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH	1	0	0	0	0	1

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