ClinVar Miner

Variants studied for Familial temporal lobe epilepsy 1

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
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
27 1 77 20 4 124

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
LGI1 26 1 76 20 4 122
CEP55, FFAR4, FRA10AC1, LGI1, MYOF, PDE6C, RBP4 1 0 0 0 0 1
GRIN2A 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 10 1 56 18 4 89
Illumina Clinical Services Laboratory,Illumina 0 0 22 2 0 24
OMIM 11 0 0 0 0 11
GeneReviews 7 0 0 0 0 7
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 3
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
Institute of Experimental Medicine, Department of Genetics,Istanbul University 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 0 0 1

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