ClinVar Miner

Variants studied for Glycogen storage disease due to muscle and heart glycogen synthase deficiency

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 not provided total
22 10 299 213 28 2 550

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 21 9 274 196 19 2 502
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 20 8 243 200 24 0 495
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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