Variants studied for Gray platelet syndrome

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
27	22	186	16	31	281

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
NBEAL2	27	22	179	16	31	274
CCDC12, NBEAL2	0	0	7	0	0	7

Submitter and significance breakdown #

Total submitters: 17

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	159	16	28	203
NIHR Bioresource Rare Diseases, University of Cambridge	16	5	13	0	0	34
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	1	13	6	0	0	20
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	0	11	0	0	11
Genome-Nilou Lab	0	0	0	0	8	8
OMIM	7	0	0	0	0	7
Baylor Genetics	0	0	4	0	0	4
Genetic Services Laboratory, University of Chicago	2	0	0	0	0	2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	1	1	0	0	0	2
Revvity Omics, Revvity	0	0	1	0	0	1
Division of Human Genetics, Children's Hospital of Philadelphia	0	0	1	0	0	1
Hadassah Hebrew University Medical Center	0	1	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	1	0	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	1	0	0	0	1
Johns Hopkins Genomics, Johns Hopkins University	0	1	0	0	0	1
New York Genome Center	0	0	1	0	0	1
Immunogenetics of Pediatric Autoimmune Diseases, Institut Imagine	1	0	0	0	0	1

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