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 not provided total
37 9 526 162 66 2 765

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CNTNAP2 31 9 524 162 66 2 757
C7orf33, CNTNAP2, CUL1, EZH2 2 0 2 0 0 0 4
CNTNAP2, MIR548F4 3 0 0 0 0 0 3
CNTNAP2, TPK1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 25 5 363 143 26 0 562
Illumina Clinical Services Laboratory,Illumina 0 0 178 21 49 0 248
Fulgent Genetics,Fulgent Genetics 0 0 21 0 0 0 21
Baylor Genetics 1 0 17 0 0 0 18
OMIM 10 0 0 0 0 0 10
Athena Diagnostics Inc 0 0 0 0 7 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 0 5
Mendelics 1 0 0 0 2 0 3
Centogene AG - the Rare Disease Company 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1

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