ClinVar Miner

Variants studied for Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4

Coded as:
Minimum submission review status: Collection method:
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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
29 10 151 170 36 391

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GABRA1 26 9 149 170 36 385
GABRA1, GABRA6, GABRB2, GABRG2 1 0 1 0 0 2
GABRA1, GABRG2 1 1 0 0 0 2
GABRA1, GABRA6 0 0 1 0 0 1
GABRA1, GABRA6, GABRG2 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 2
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 24 10 151 170 36 391
Uskudar University, Department of Molecular Biology and Genetics, Uskudar University 5 0 0 0 0 5

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