ClinVar Miner

Variants studied for familial temporal lobe epilepsy 7

Included ClinVar conditions (3):
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
44 19 1293 1358 189 9 2832

Gene and significance breakdown #

Total genes and gene combinations: 5
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RELN 36 17 1013 1040 152 7 2207
RELN, SLC26A5 5 1 225 235 25 1 474
LOC126860130, RELN, SLC26A5 2 1 37 50 7 1 95
LOC126860131, RELN 0 0 17 33 5 0 54
DNAJC2, PMPCB, PSMC2, RELN, SLC26A5 1 0 1 0 0 0 2

Submitter and significance breakdown #

Total submitters: 23
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 39 15 1220 1343 188 0 2805
Fulgent Genetics, Fulgent Genetics 0 0 55 20 3 0 78
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 10 0 0 0 11
New York Genome Center 0 0 11 0 0 0 11
GeneReviews 0 0 0 0 0 7 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 6 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 0 1 4 0 0 0 5
OMIM 4 0 0 0 0 0 4
Baylor Genetics 0 0 3 0 0 0 3
Centogene AG - the Rare Disease Company 0 1 2 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 3 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 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.