ClinVar Miner

Variants studied for Glycogen storage disease type 1A

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
27 34 16 5 0 1 72

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign not provided total
G6PC 27 34 16 5 1 72

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign not provided total
Counsyl 5 29 12 4 0 50
Invitae 15 5 4 1 0 25
OMIM 14 0 0 0 0 14
Integrated Genetics/Laboratory Corporation of America 10 0 0 0 0 10
GeneReviews 7 0 0 0 0 7
Illumina Clinical Services Laboratory,Illumina 4 1 0 0 0 5
National Center for Biotechnology Information, National Institutes of Health 4 0 0 0 0 4
Fulgent Genetics,Fulgent Genetics 3 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 2 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 0 0 0 0 1
Laboratory of Molecular Genetics; Faculty of Medical Sciences - University of Campinas 0 0 0 0 1 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 0 0 0 1

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