ClinVar Miner

Variants in gene GCK

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
108 152 195 53 47 1 481

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 74 54 87 20 26 0 252
Maturity-onset diabetes of the young, type 2 38 98 59 15 22 0 224
not specified 0 1 48 17 14 0 71
Permanent neonatal diabetes mellitus 5 0 37 11 12 0 65
Hyperinsulinism due to glucokinase deficiency 6 0 35 15 8 0 64
Transient Neonatal Diabetes, Recessive 0 0 37 11 12 0 60
Monogenic diabetes 3 8 5 0 1 0 17
Maturity onset diabetes mellitus in young 2 3 1 0 1 0 7
Permanent neonatal diabetes mellitus; Type 2 diabetes mellitus; Hyperinsulinism due to glucokinase deficiency; Maturity-onset diabetes of the young, type 2 4 1 1 0 0 0 6
Gestational diabetes 2 3 0 0 0 0 5
Inborn genetic diseases 0 1 3 0 0 0 4
Type 2 diabetes mellitus 1 1 2 0 0 0 4
Hyperinsulinism, Dominant 0 0 1 0 1 0 2
Permanent neonatal diabetes mellitus 1 2 0 0 0 0 0 2
Diabetes mellitus 1 0 0 0 0 0 1
Neonatal diabetes mellitus 0 0 1 0 0 0 1
Permanent neonatal diabetes mellitus; Type 2 diabetes mellitus; Maturity-onset diabetes of the young, type 2 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Athena Diagnostics Inc 51 30 96 2 15 0 194
Integrated Genetics/Laboratory Corporation of America 8 81 21 10 1 0 121
GeneDx 27 24 13 14 13 0 91
Illumina Clinical Services Laboratory,Illumina 0 0 37 20 24 0 60
Genetic Services Laboratory, University of Chicago 12 12 13 5 3 0 45
Invitae 2 0 3 12 11 0 28
Broad Institute Rare Disease Group, Broad Institute 3 5 19 0 0 0 27
OMIM 15 0 0 0 0 0 15
Translational Genomics Laboratory,University of Maryland School of Medicine 6 8 0 0 0 0 14
PreventionGenetics, PreventionGenetics 0 0 0 3 7 0 10
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 4 0 3 0 2 0 9
GeneReviews 6 0 0 0 0 0 6
Fulgent Genetics,Fulgent Genetics 4 1 1 0 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 2 2 0 2 0 0 6
Ambry Genetics 0 1 3 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 1 2 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 2 0 0 0 0 3
Mendelics 2 0 1 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 1 1 0 3
Kangwon National University Hospital 1 2 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 2 0 0 0 3
Personalized Diabetes Medicine Program,University of Maryland School of Medicine 0 0 2 0 1 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 2 0 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
MVZ Dr. Eberhard & Partner Dortmund 1 0 1 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 0 0 0 0 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 1 0 0 0 0 2
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 2 0 0 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 1 0 0 0 0 1
Strand Center for Genomics and Personalized Medicine,Strand Life Sciences Pvt Ltd 0 0 1 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Endocrinology, Diabetes & Metabolism,Max Healthcare Institute Ltd. 0 0 1 0 0 0 1
Constantin Polychronakos Laboratory,The Research Institute of the McGill University Health Centre 1 0 0 0 0 0 1

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