ClinVar Miner

Variants studied for Glycogen storage disease, type VI

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
38 20 111 74 30 18 252

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
PYGL 38 20 111 74 29 18 251
LOC130055618, PYGL 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 21 5 66 67 24 0 183
Illumina Laboratory Services, Illumina 0 1 36 4 17 0 58
GeneReviews 1 0 0 0 0 18 19
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 2 5 4 0 0 0 11
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 5 4 0 10
Baylor Genetics 2 0 6 0 0 0 8
Fulgent Genetics, Fulgent Genetics 0 0 6 0 2 0 8
Genome-Nilou Lab 0 0 0 0 7 0 7
Revvity Omics, Revvity Omics 1 2 3 0 0 0 6
Molecular Diagnostics Laboratory, Seoul National University Hospital 1 5 0 0 0 0 6
OMIM 5 0 0 0 0 0 5
Mendelics 2 1 1 0 1 0 5
Centre for Human Genetics 3 0 2 0 0 0 5
3billion 1 0 4 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 1 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Suma Genomics 1 0 0 0 0 0 1

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