ClinVar Miner

Variants studied for Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

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
44 49 91 25 19 1 201

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 benign not provided total
G6PC1 44 49 91 25 19 1 201

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 4 1 70 6 13 0 94
Invitae 32 7 10 16 6 0 71
Counsyl 1 29 12 4 0 0 46
Integrated Genetics/Laboratory Corporation of America 16 3 0 0 0 0 19
Baylor Genetics 14 4 0 0 0 0 18
OMIM 14 0 0 0 0 0 14
GeneReviews 7 0 0 0 0 0 7
Myriad Women's Health, Inc. 6 1 0 0 0 0 7
Mendelics 3 3 0 0 0 0 6
National Center for Biotechnology Information, National Institutes of Health 4 0 0 0 0 0 4
Fulgent Genetics,Fulgent Genetics 3 0 0 0 0 0 3
Centogene AG - the Rare Disease Company 0 2 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 2
Kids Research, The Children's Hospital at Westmead 1 1 0 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 1 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 1
Laboratory of Molecular Genetics MedGen 0 0 0 0 0 1 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 1 0 0 0 0 1

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