ClinVar Miner

Variants studied for Gray platelet syndrome

Coded as:
Minimum submission review status: Collection method:
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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
27 23 190 16 31 286

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 23 183 16 31 279
CCDC12, NBEAL2 0 0 7 0 0 7

Submitter and significance breakdown #

Total submitters: 20
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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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 2 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 3 0 0 3
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
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 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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