Variants studied for Glycogen storage disease due to muscle and heart 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	not provided	total
24	10	299	213	28	2	552

Gene and significance breakdown #

Total genes and gene combinations: 8

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
GYS1	23	9	274	196	19	2	504
FTL, GYS1	0	0	8	5	6	0	15
GYS1, LOC119369037	1	1	6	7	0	0	15
GYS1, LOC130064896	0	0	5	1	2	0	8
GYS1, LOC130064895	0	0	3	2	0	0	5
FTL, GYS1, LOC130064893	0	0	1	2	0	0	3
FTL, GYS1, LOC119369037	0	0	1	0	1	0	1
GYS1, LOC130064893	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	22	8	243	200	24	0	497
Illumina Laboratory Services, Illumina	0	0	67	12	12	0	91
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	4	3	0	7
Baylor Genetics	0	0	5	0	0	0	5
Revvity Omics, Revvity	1	1	2	0	0	0	4
OMIM	2	0	0	0	0	0	2
GenomeConnect, ClinGen	0	0	0	0	0	2	2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	1	0	0	0	0	1
Fulgent Genetics, Fulgent Genetics	0	0	1	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	1	0	0	0	0	1
New York Genome Center	0	0	1	0	0	0	1
Genome-Nilou Lab	0	0	0	0	1	0	1
Kids Neuroscience Centre, Sydney Children's Hospitals Network	1	0	0	0	0	0	1

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