ClinVar Miner

Variants in gene GABRA1

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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 total
13 17 96 77 31 4 211

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
not specified 0 0 4 43 21 0 65
not provided 8 14 24 7 12 0 61
Juvenile myoclonic epilepsy 0 0 46 9 0 0 55
Idiopathic generalized epilepsy; Epilepsy, juvenile myoclonic 5; Epilepsy, childhood absence 4 3 0 20 12 7 0 42
Seizures 1 0 3 9 3 0 16
Epileptic encephalopathy, early infantile, 19 5 3 1 0 0 0 9
Epilepsy, juvenile myoclonic 5 0 0 0 0 0 3 3
Epilepsy, juvenile myoclonic 5; Epileptic encephalopathy, early infantile, 19 1 1 1 0 0 0 3
Inborn genetic diseases 1 0 1 0 0 0 2
Epilepsy, childhood absence 4 0 0 0 0 0 1 1
Intractable seizure 0 0 1 0 0 0 1
Marfanoid habitus and intellectual disability 0 0 1 0 0 0 1
See cases 0 0 0 1 0 0 1
Sensorineural hearing loss; Seizures; Intellectual disability 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
GeneDx 8 12 13 42 25 0 100
Illumina Clinical Services Laboratory,Illumina 0 0 46 9 0 0 55
Invitae 3 0 20 12 7 0 42
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 12 2 4 0 19
Ambry Genetics 1 0 3 9 3 0 16
OMIM 3 0 0 0 0 4 7
Genetic Services Laboratory, University of Chicago 0 0 2 3 1 0 6
PreventionGenetics 0 0 0 1 5 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 2 0 0 5
Athena Diagnostics Inc 0 1 0 0 2 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Institute of Human Genetics,University of Goettingen 0 0 1 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
ISCA site 1 0 0 0 1 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Laboratoire de Cytogenetique,Hospices Civils de Lyon 1 0 0 0 0 0 1

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