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
83 35 845 546 81 4 1526

Gene and significance breakdown #

Total genes and gene combinations: 8
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CNTNAP2 69 35 813 519 79 4 1451
CNTNAP2, LOC126860216 5 0 26 27 2 0 60
C7orf33, CNTNAP2, CUL1, EZH2 3 0 4 0 0 0 7
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: 30
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 59 22 669 524 50 0 1324
Illumina Laboratory Services, Illumina 0 0 178 21 49 0 248
Fulgent Genetics, Fulgent Genetics 0 0 31 3 0 0 34
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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 8 0 0 0 8
New York Genome Center 0 1 7 0 0 0 8
Athena Diagnostics 0 0 0 0 7 0 7
Genome-Nilou Lab 0 0 0 0 6 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 4 0 0 0 0 5
3billion 3 0 0 1 0 0 4
Mendelics 1 0 0 0 2 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 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
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.