ClinVar Miner

Variants studied for alpha granule disease

Included ClinVar conditions (3):
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
14 0 103 27 21 165

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic uncertain significance likely benign benign total
NBEAL2 9 80 5 13 107
C10orf55, PLAU 0 18 22 8 48
GFI1B 4 1 0 0 5
CCDC12, NBEAL2 0 4 0 0 4
C10orf55, LOC110121485, PLAU 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 4
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Submitter pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 101 27 21 149
OMIM 12 0 0 0 12
Genetic Services Laboratory, University of Chicago 2 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 2 0 0 2

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