ClinVar Miner

Variants studied for Glycogen storage disease type III

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
72 104 263 29 14 1 449

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
AGL 72 104 263 29 14 1 449

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 50 3 195 11 5 0 264
Counsyl 12 93 21 6 0 0 132
Illumina Clinical Services Laboratory,Illumina 0 2 52 12 9 0 75
Mendelics 7 2 2 0 0 0 11
Integrated Genetics/Laboratory Corporation of America 9 1 0 0 0 0 10
GeneReviews 9 0 0 0 0 0 9
Fulgent Genetics,Fulgent Genetics 1 0 6 0 0 0 7
Phosphorus, Inc. 0 0 0 1 4 0 5
Baylor Genetics 3 1 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 1 0 0 3
Division of Human Genetics,Children's Hospital of Philadelphia 1 2 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 2 0 0 0 0 3
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 2 0 0 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 1

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