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
42 79 101 19 25 5 219

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GBE1 39 79 101 19 25 5 216
​intergenic 2 0 0 0 0 0 2
GAA 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Baylor Genetics 24 57 4 0 0 0 85
Natera, Inc. 7 5 35 12 14 0 73
Illumina Laboratory Services, Illumina 0 0 44 6 18 0 68
Broad Institute Rare Disease Group, Broad Institute 5 15 21 0 0 0 41
GeneReviews 12 0 0 0 0 3 15
Genome-Nilou Lab 0 2 7 2 3 0 14
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 8 0 0 0 0 12
Counsyl 2 2 4 1 0 0 9
Pars Genome Lab 0 0 0 2 4 0 6
MGZ Medical Genetics Center 2 2 0 0 0 0 4
Mendelics 2 1 0 0 1 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 2 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 0 0 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 1 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Center of Excellence for Medical Genomics, Chulalongkorn University 1 1 0 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 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 Genetics, Inc. 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 1

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