ClinVar Miner

Variants in gene GABRG2

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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 risk factor not provided total
25 21 100 62 41 2 1 220

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Epilepsy, childhood absence 2; Familial febrile seizures 8 5 7 39 12 4 0 0 67
not provided 10 12 28 6 12 0 0 65
Generalized epilepsy with febrile seizures plus 0 0 31 17 5 0 0 53
Severe myoclonic epilepsy in infancy 0 0 31 17 5 0 0 53
not specified 0 0 7 29 23 0 0 53
Seizures 1 0 4 4 6 0 0 15
Familial febrile seizures 8 5 1 0 0 2 0 0 8
Inborn genetic diseases 0 1 5 0 0 0 0 6
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 74 3 0 0 0 0 0 0 3
Rolandic epilepsy 3 0 0 0 0 0 0 3
See cases 3 0 0 0 0 0 0 3
Epilepsy, childhood absence 2 0 0 0 0 0 2 0 2
GABRG2-Related Disorder 0 0 0 0 0 0 1 1
Generalized epilepsy with febrile seizures plus 3 1 0 0 0 0 0 0 1
Lennox-Gastaut syndrome 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
GeneDx 10 10 19 29 30 0 0 98
Invitae 5 7 37 12 4 0 0 65
Illumina Clinical Services Laboratory,Illumina 0 0 31 17 5 0 0 53
Ambry Genetics 1 1 8 4 6 0 0 20
OMIM 8 0 1 0 0 2 0 9
Athena Diagnostics Inc 1 0 2 1 5 0 0 9
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 7 1 1 0 0 9
Genetic Services Laboratory, University of Chicago 0 0 1 4 0 0 0 5
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 1 3 0 0 0 0 4
PreventionGenetics 0 0 0 1 3 0 0 4
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 3 0 0 0 0 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 1 0 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 0 0 2
ISCA site 1 2 0 0 0 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 1 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 1 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1

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