ClinVar Miner

Variants in gene GCK

Minimum submission review status: Collection method:
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Gene type:
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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 total
96 143 132 51 31 403

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 65 51 65 18 26 218
Maturity-onset diabetes of the young, type 2 32 94 14 9 0 148
not specified 0 0 46 16 13 66
Permanent neonatal diabetes mellitus 6 0 7 18 4 35
Maturity onset diabetes mellitus in young 2 2 7 19 4 34
Hyperinsulinism, Dominant 0 0 7 18 4 29
Transient Neonatal Diabetes, Recessive 0 0 7 18 4 29
Monogenic diabetes 3 5 4 0 1 13
Hyperinsulinemic hypoglycemia familial 3 6 0 0 0 0 6
Permanent neonatal diabetes mellitus; Diabetes mellitus type 2; Hyperinsulinemic hypoglycemia familial 3; Maturity-onset diabetes of the young, type 2 4 1 1 0 0 6
Maternal diabetes 2 3 0 0 0 5
Diabetes mellitus, noninsulin-dependent, late-onset 1 0 0 0 0 1
Inborn genetic diseases 0 1 0 0 0 1
Neonatal diabetes mellitus 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Athena Diagnostics Inc 45 27 79 2 13 166
Integrated Genetics/Laboratory Corporation of America 5 79 15 9 1 109
GeneDx 27 24 13 14 13 91
Genetic Services Laboratory, University of Chicago 12 11 15 4 3 45
Illumina Clinical Services Laboratory,Illumina 0 0 7 19 4 30
Invitae 0 0 0 12 11 23
OMIM 15 0 0 0 0 15
Translational Genomics Laboratory,University of Maryland School of Medicine 6 8 0 0 0 14
PreventionGenetics,PreventionGenetics 0 0 0 3 7 10
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 4 0 3 0 2 9
GeneReviews 6 0 0 0 0 6
Fulgent Genetics,Fulgent Genetics 4 1 1 0 0 6
Personalized Diabetes Medicine Program,University of Maryland School of Medicine 0 0 4 0 1 5
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 2 0 0 0 3
Mendelics 2 0 1 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 1 1 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 2 0 0 3
Molecular Diagnostics Laboratory, M Health: University of Minnesota 1 2 0 0 0 3
MVZ Dortmund,Dr. Eberhard & Partner 1 0 1 0 0 2
Kangwon National University Hospital 0 2 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 0 0 0 2
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 2 0 0 0 0 2
Ambry Genetics 0 1 0 0 0 1
Strand Center for Genomics and Personalized Medicine,Strand Life Sciences Pvt Ltd 0 0 1 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 0 0 0 0 1
Institute of Endocrinology, Diabetes & Metabolism,Max Healthcare Institute Ltd. 0 0 1 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory,Seattle Children's Hospital 1 0 0 0 0 1

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