ClinVar Miner

Variants studied for Glycogen storage disease, type V

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
32 46 74 8 12 2 153

Gene and significance breakdown #

Total genes and gene combinations: 1
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PYGM 32 46 74 8 12 2 153

Submitter and significance breakdown #

Total submitters: 15
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 7 40 23 1 0 0 71
Illumina Clinical Services Laboratory,Illumina 4 2 42 4 2 0 54
Invitae 7 2 12 3 7 0 31
OMIM 19 0 0 0 0 0 19
GeneReviews 8 0 0 0 5 0 13
Fulgent Genetics 3 1 4 0 0 0 8
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 2 0 0 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 1 1 0 0 0 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 1 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.