ClinVar Miner

Variants studied for Gray platelet syndrome

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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
26 18 179 16 31 269

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 26 18 173 16 31 263
CCDC12, NBEAL2 0 0 6 0 0 6

Submitter and significance breakdown #

Total submitters: 13
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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 11 4 0 0 16
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
PerkinElmer Genomics 1 0 0 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
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 1

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