ClinVar Miner

Variants studied for Glycogen storage disease, type IV

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
24 8 69 17 22 2 126

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
GBE1 22 8 69 17 22 2 124
​intergenic 2 0 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 44 6 18 0 68
Natera, Inc. 6 1 20 8 10 0 45
GeneReviews 15 0 0 0 0 0 15
Nilou-Genome Lab 0 2 7 2 3 0 14
Counsyl 2 2 4 1 0 0 9
Pars Genome Lab 0 0 0 2 4 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 2 0 3
Baylor Genetics 2 0 0 0 0 0 2
Mendelics 0 1 0 0 1 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Clinical Genetics laboratory, University of Goettingen 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Jacobi Internal Medicine Residency Program,Jacobi Medical Center 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 0 1

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