ClinVar Miner

Variants studied for Glycogen storage disease, type VI

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 34 118 93 29 18 293

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
PYGL 44 34 118 93 29 18 293

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 28 5 67 89 24 0 213
Illumina Laboratory Services, Illumina 0 1 32 4 14 0 51
GeneReviews 1 0 0 0 0 18 19
Fulgent Genetics, Fulgent Genetics 1 6 7 0 2 0 16
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 6 6 0 14
Neuberg Centre For Genomic Medicine, NCGM 2 5 6 0 0 0 13
Baylor Genetics 2 0 6 0 0 0 8
Genome-Nilou Lab 0 0 0 0 7 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 4 2 0 0 0 7
Revvity Omics, Revvity 1 2 4 0 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 2 0 0 0 0 7
3billion 1 0 5 0 0 0 6
Molecular Diagnostics Laboratory, Seoul National University Hospital 1 5 0 0 0 0 6
Centre for Human Genetics 3 0 2 0 0 0 5
Mendelics 2 1 1 0 1 0 5
OMIM 5 0 0 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 3 1 0 0 0 4
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 2 0 0 0 0 2
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 1 0 0 2
Centre for Medical Genetics, Mumbai 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1

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