ClinVar Miner

Variants studied for cortical dysplasia-focal epilepsy syndrome

Included ClinVar conditions (2):
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
21 0 259 72 53 390

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic uncertain significance likely benign benign total
CNTNAP2 17 259 72 53 386
CNTNAP2, MIR548F4 3 0 0 0 3
CNTNAP2, TPK1 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic uncertain significance likely benign benign total
Invitae 10 153 52 26 241
Illumina Clinical Services Laboratory,Illumina 0 102 20 26 148
Fulgent Genetics,Fulgent Genetics 0 21 0 0 21
OMIM 10 0 0 0 10
Athena Diagnostics Inc 0 0 0 7 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 5 0 0 5
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 0 0 1

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