ClinVar Miner

Variants studied for Epileptic encephalopathy, early infantile, 19

Coded as:
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 total
5 4 2 0 0 11

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
GABRA1 5 4 2 11

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 3 0 0 3
Mendelics 1 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 0 1 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 1

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