ClinVar Miner

Variants studied for Glycogen storage disease 0, muscle

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
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
8 5 170 63 25 2 260

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GYS1 7 5 159 54 18 2 237
FTL, GYS1 0 0 9 7 6 0 18
GYS1, LOC119369037 1 0 1 2 0 0 4
FTL, GYS1, LOC119369037 0 0 1 0 1 0 1

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 6 4 111 51 21 0 193
Illumina Clinical Services Laboratory,Illumina 0 0 67 12 12 0 91
OMIM 2 0 0 0 0 0 2
Baylor Genetics 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1

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