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
56 54 99 80 24 1 277

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
G6PC1 55 54 99 80 22 1 274
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: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 41 8 12 69 9 0 139
Illumina Clinical Services Laboratory,Illumina 4 1 70 6 13 0 94
Counsyl 1 29 12 4 0 0 46
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 19 4 0 0 0 0 23
Baylor Genetics 14 5 0 0 0 0 19
Natera, Inc. 3 1 8 3 4 0 19
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
Centre for Human Genetics 5 0 0 0 0 0 5
Fulgent Genetics,Fulgent Genetics 4 0 0 0 0 0 4
National Center for Biotechnology Information, National Institutes of Health 4 0 0 0 0 0 4
Nilou-Genome 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
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 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, 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
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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