ClinVar Miner

Variants studied for Cortical dysplasia-focal epilepsy syndrome

Coded as:
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Gene type:

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
92 36 785 649 67 4 1584

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 78 36 753 617 65 4 1504
CNTNAP2, LOC126860216 5 0 26 32 2 0 65
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: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 66 23 672 639 51 0 1451
Illumina Laboratory Services, Illumina 0 0 116 12 31 0 159
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 3 0 0 0 0 10
New York Genome Center 0 1 7 0 0 0 8
Athena Diagnostics 0 0 0 0 6 0 6
Genome-Nilou Lab 0 0 0 0 6 0 6
3billion 4 0 1 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Mendelics 1 0 0 0 2 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 3
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 2 0 0 0 0 2
MGZ Medical Genetics Center 0 0 2 0 0 0 2
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
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 1

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