ClinVar Miner

Variants in gene AGL

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
176 149 538 269 71 1 1098

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Glycogen storage disease type III 160 142 520 203 45 1 994
not provided 25 7 37 48 29 0 143
not specified 0 0 1 57 31 0 85
Glycogen storage disease IIIa 16 1 3 0 0 0 20
Glycogen storage disease IIIb 6 0 0 0 0 0 6
Inborn genetic diseases 2 0 0 0 0 0 2
Glycogen storage disease 0 1 0 0 0 0 1
Glycogen storage disease IIIc 1 0 0 0 0 0 1
none provided 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 135 11 400 201 28 0 775
Counsyl 11 91 21 6 0 0 129
Illumina Clinical Services Laboratory,Illumina 0 2 97 6 24 0 129
GeneDx 8 5 5 55 40 0 113
Natera, Inc. 14 1 69 7 16 0 107
PreventionGenetics, PreventionGenetics 0 0 0 12 26 0 38
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 17 0 12 2 6 0 37
Integrated Genetics/Laboratory Corporation of America 26 4 0 0 3 0 33
Mayo Clinic Laboratories, Mayo Clinic 2 1 3 15 11 0 32
Myriad Women's Health, Inc. 1 25 0 0 0 0 26
CeGaT Praxis fuer Humangenetik Tuebingen 2 1 15 4 0 0 22
Centre for Human Genetics 12 7 0 0 1 0 20
OMIM 15 0 0 0 0 0 15
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
Ege University Pediatric Genetics,Ege University 3 0 3 0 0 0 6
Phosphorus, Inc. 0 0 0 1 4 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 0 1 0 0 3
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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 2 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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 0 0 0 2
Ambry Genetics 2 0 0 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 0 2
Stanford Center for Inherited Cardiovascular Disease,Stanford University 1 0 1 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
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 0 1
Lineagen, Inc 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 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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