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
160 142 520 310 50 1 1105

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 160 142 520 310 50 1 1105

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 135 11 400 295 40 0 881
Counsyl 11 91 21 6 0 0 129
Illumina Clinical Services Laboratory,Illumina 0 2 97 6 24 0 129
Natera, Inc. 14 1 69 7 16 0 107
Myriad Women's Health, Inc. 1 25 0 0 0 0 26
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 19 3 0 0 0 0 22
Centre for Human Genetics 12 7 0 0 1 0 20
Mendelics 7 2 2 0 0 0 11
Baylor Genetics 3 1 6 0 0 0 10
GeneReviews 9 0 0 0 0 0 9
Fulgent Genetics,Fulgent Genetics 1 0 6 0 0 0 7
Centogene AG - the Rare Disease Company 4 2 0 0 0 0 6
Phosphorus, Inc. 0 0 0 1 4 0 5
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 Fairview: University of Minnesota 1 2 0 0 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 1 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 1 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 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
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 1
Nilou-Genome Lab 0 1 0 0 0 0 1

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