Variants studied for Adult polyglucosan body disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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 Center for Mendelian Genomics, Broad Institute of MIT and Harvard	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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