ClinVar Miner

Variants studied for Glycogen storage disease IXb

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
13 4 112 37 24 174

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
PHKB 13 4 105 37 23 167
LOC112449713, PHKB 0 0 7 0 1 7

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 2 78 16 13 109
Invitae 5 1 32 24 19 81
OMIM 6 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 3
Centre for Human Genetics 3 0 0 0 0 3
Baylor Genetics 0 0 1 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 1

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