Variants studied for Glycogen storage disorder due to hepatic glycogen synthase deficiency

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
22	13	91	49	36	186

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
GYS2	20	12	84	45	34	172
GYS2, LOC126861480	2	1	7	4	2	14

Submitter and significance breakdown #

Total submitters: 18

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	15	5	35	39	30	124
Illumina Laboratory Services, Illumina	1	1	51	10	16	79
OMIM	8	0	0	0	0	8
Revvity Omics, Revvity	4	2	1	1	0	8
Fulgent Genetics, Fulgent Genetics	5	0	0	2	0	7
Genome-Nilou Lab	0	0	0	0	7	7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	1	5	6
3billion	3	1	1	0	0	5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	3	1	0	0	0	4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	3	0	1	0	0	4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	1	2	0	0	4
Neuberg Centre For Genomic Medicine, NCGM	1	2	1	0	0	4
Baylor Genetics	1	0	1	0	0	2
Mendelics	0	0	0	0	1	1
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	1	0	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	1	0	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	1	0	0	0	0	1
New York Genome Center	0	1	0	0	0	1

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