ClinVar Miner

Variants studied for Cortical dysplasia-focal epilepsy syndrome

Coded as:
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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 not provided total
81 29 835 543 81 4 1516

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CNTNAP2 67 29 804 516 79 4 1442
CNTNAP2, LOC126860216 5 0 26 27 2 0 60
C7orf33, CNTNAP2, CUL1, EZH2 3 0 3 0 0 0 6
CNTNAP2, LOC123956262, LOC129389920 2 0 1 0 0 0 3
CNTNAP2, MIR548F4 2 0 0 0 0 0 2
CNTNAP2, LOC123956262, LOC129389920, MIR548F4 1 0 0 0 0 0 1
CNTNAP2, LOC129999529 0 0 1 0 0 0 1
CNTNAP2, TPK1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 57 18 667 524 50 0 1316
Illumina Laboratory Services, Illumina 0 0 178 21 49 0 248
Revvity Omics, Revvity 2 0 25 1 0 0 28
Baylor Genetics 0 0 17 0 0 0 17
St. Anna Children's Cancer Research Institute (CCRI) 8 3 6 0 0 0 17
OMIM 10 0 0 0 0 0 10
Athena Diagnostics Inc 0 0 0 0 7 0 7
New York Genome Center 0 1 6 0 0 0 7
Genome-Nilou Lab 0 0 0 0 6 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 3 0 0 0 0 4
Mendelics 1 0 0 0 2 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
3billion 3 0 0 0 0 0 3
MGZ Medical Genetics Center 0 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 0 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 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
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1

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