ClinVar Miner

Variants studied for Glycogen storage disease, type VII

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
47 76 168 529 41 1 823

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 not provided total
PFKM 47 75 167 524 41 1 817
MIR6505, PFKM 0 1 1 5 0 0 6

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 41 25 108 518 24 0 716
Natera, Inc. 3 5 22 12 9 0 51
Illumina Laboratory Services, Illumina 1 0 32 6 10 0 49
Baylor Genetics 5 34 3 0 0 0 42
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 1 12 12 12 0 38
Revvity Omics, Revvity 2 1 25 0 0 0 28
Myriad Genetics, Inc. 1 22 0 0 0 0 23
Pars Genome Lab 0 0 0 1 14 0 15
Genome-Nilou Lab 0 0 4 2 4 0 10
OMIM 9 0 0 0 0 0 9
Fulgent Genetics, Fulgent Genetics 1 1 2 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 0 0 0 0 3
Counsyl 0 0 1 1 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1

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