ClinVar Miner

Variants studied for Glycogen storage disease type X

Coded as:
Minimum submission review status: Collection method:
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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
15 3 88 63 8 1 159

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
DBNL, PGAM2 9 1 59 47 4 1 109
DBNL, LOC129998343, PGAM2 4 2 13 4 1 0 20
DBNL, LOC129998342, PGAM2 1 0 6 8 3 0 16
DBNL, LOC129998341, PGAM2 0 0 9 4 0 0 12
PGAM2 1 0 1 0 0 0 2

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 12 0 72 59 8 0 151
Illumina Laboratory Services, Illumina 0 0 16 4 4 0 24
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 3 1 0 5
OMIM 4 0 0 0 0 0 4
Revvity Omics, Revvity 0 1 3 0 0 0 4
Baylor Genetics 0 0 3 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 1 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 0 2
Dasa 1 0 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 0 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1

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