ClinVar Miner

Variants studied for Glycogen storage disease, type II

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 other total
107 139 319 46 38 3 586

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other total
GAA 106 139 319 40 31 3 572
CCDC40, GAA 0 0 0 6 7 0 13
​intergenic 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other total
Invitae 61 10 238 15 1 3 328
Counsyl 21 124 52 7 2 0 206
Illumina Clinical Services Laboratory,Illumina 5 2 45 21 14 0 87
Integrated Genetics/Laboratory Corporation of America 34 5 0 0 0 0 39
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 16 0 16
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 1 1 3 9 0 15
Fulgent Genetics,Fulgent Genetics 7 1 4 0 0 0 12
Phosphorus, Inc. 0 0 0 0 12 0 12
Department of Pediatrics, Division of Medical Genetics,Faculty of Medicine Ramathibodi Hospital, Mahidol University 5 0 0 0 1 0 6
GeneReviews 5 0 0 0 0 0 5
OMIM 4 0 0 0 0 0 4
Mendelics 2 1 0 0 1 0 4
Medical Genetic Department,Shiraz University Of Medical Science 3 0 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 0 1 0 0 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 1 0 0 0 3
Baylor Genetics 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 0 0 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 2 0 0 0 0 0 2
Laboratorio de Medicina Genomica, Hospital General de Culiacan 2 0 0 0 0 0 2
Medical Molecular Genetics Department, National Research Center 2 0 0 0 0 0 2
Broad Institute Rare Disease Group,Broad Institute 2 0 0 0 0 0 2
Claritas Genomics 1 0 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 1
Freeman-Sheldon Research Group,deGruyter-McKusick Institute of Health Sciences 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 1
NxGen MDx 0 1 0 0 0 0 1

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