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
112 86 167 215 26 8 537

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
G6PC1 111 85 167 215 24 8 533
ASS1 0 1 0 0 0 0 1
GAA 1 0 0 0 0 0 1
MMAB 0 0 0 0 1 0 1
SLC37A4 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 97 29 75 200 10 0 411
Illumina Laboratory Services, Illumina 4 1 70 6 13 0 94
Natera, Inc. 29 2 14 13 8 0 66
Counsyl 1 28 12 4 0 0 45
Fulgent Genetics, Fulgent Genetics 11 6 12 9 0 0 38
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 26 9 0 0 0 0 35
Baylor Genetics 14 6 0 0 0 0 20
Revvity Omics, Revvity 13 3 3 0 0 0 19
OMIM 14 0 0 0 0 0 14
Myriad Genetics, Inc. 7 4 0 0 0 0 11
Mendelics 4 4 0 0 0 0 8
GeneReviews 0 0 0 0 0 7 7
Centre for Human Genetics 5 0 0 0 0 0 5
3billion 3 0 2 0 0 0 5
National Center for Biotechnology Information, National Institutes of Health 4 0 0 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 2 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 2 1 0 0 0 0 3
Genome-Nilou Lab 0 0 2 0 1 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
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 2
Kids Research, The Children's Hospital at Westmead 1 1 0 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 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
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 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
Pars Genome Lab 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 1 0 0 0 0 0 1

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