ClinVar Miner

Variants studied for developmental and epileptic encephalopathy, 64

Included ClinVar conditions (1):
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
7 7 29 2 3 2 43

Gene and significance breakdown #

Total genes and gene combinations: 2
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RHOBTB2 7 7 28 2 3 2 42
SCN8A 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Neuberg Centre For Genomic Medicine, NCGM 1 0 8 0 0 0 9
SIB Swiss Institute of Bioinformatics 2 4 0 0 0 0 6
New York Genome Center 0 0 6 0 0 0 6
OMIM 5 0 0 0 0 0 5
Baylor Genetics 1 0 4 0 0 0 5
Revvity Omics, Revvity 0 0 4 0 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 0 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 1 2 0 0 0 4
3billion 1 0 2 1 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 2 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 1 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Illumina Laboratory Services, Illumina 1 0 1 0 0 0 2
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Pediatrics, MediClubGeorgia 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 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.