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
66 103 228 109 50 1 487

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Glycogen storage disease type III 50 97 211 55 36 1 412
not specified 0 0 3 57 31 0 87
not provided 22 7 31 16 12 0 86
Glycogen storage disease IIIa 13 0 0 0 0 0 13
Glycogen storage disease IIIb 6 0 0 0 0 0 6
Glycogen storage disease IIIc 1 0 0 0 0 0 1
Inborn genetic diseases 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 31 3 144 37 27 0 242
Counsyl 10 90 21 6 0 0 127
GeneDx 7 5 5 49 23 0 89
Illumina Clinical Services Laboratory,Illumina 0 2 52 12 9 0 75
PreventionGenetics 0 0 0 12 26 0 38
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 17 0 12 2 6 0 37
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 2 1 3 15 11 0 32
Integrated Genetics/Laboratory Corporation of America 15 1 0 0 3 0 19
OMIM 15 0 0 0 0 0 15
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 10 0 0 0 11
GeneReviews 9 0 0 0 0 0 9
Fulgent Genetics 1 0 6 0 0 0 7
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
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
Baylor Miraca Genetics Laboratories, 1 1 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 0 0 0 2
Stanford Center for Inherited Cardiovascular Disease,Stanford University 1 0 1 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 1 0 0 1
Ambry Genetics 1 0 0 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 0 1
Mendelics 1 0 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
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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