ClinVar Miner

Variants studied for gray platelet syndrome

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
34 26 200 17 31 306

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
NBEAL2 27 23 181 16 31 277
GFI1B 7 3 12 1 0 22
CCDC12, NBEAL2 0 0 7 0 0 7

Submitter and significance breakdown #

Total submitters: 22
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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 4 16 11 1 0 32
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 12 0 0 12
OMIM 11 0 0 0 0 11
Genome-Nilou Lab 0 0 0 0 8 8
Baylor Genetics 0 0 5 0 0 5
Genetics and Molecular Pathology, SA Pathology 0 2 2 0 0 4
Revvity Omics, Revvity 0 0 3 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 2 0 0 3
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 2 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 1 1 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 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
Lifecell International Pvt. Ltd 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 1

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