ClinVar Miner

Variants studied for Adult polyglucosan body disease

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
7 3 50 9 20 87

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GBE1 7 3 50 9 20 87

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 43 7 17 67
Genome-Nilou Lab 0 0 6 0 3 9
Broad Institute Rare Disease Group, Broad Institute 2 1 3 0 0 6
Pars Genome Lab 0 0 0 1 4 5
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 2
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 2 0 0 0 0 2
Baylor Genetics 0 1 0 0 0 1
Natera, Inc. 0 0 0 1 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 1

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