ClinVar Miner

Variants studied for developmental and epileptic encephalopathy, 67

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 total
2 2 50 4 3 60

Gene and significance breakdown #

Total genes and gene combinations: 1
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CUX2 2 2 50 4 3 60

Submitter and significance breakdown #

Total submitters: 23
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Revvity Omics, Revvity 0 0 18 0 0 18
Fulgent Genetics, Fulgent Genetics 0 0 2 4 0 6
New York Genome Center 0 0 6 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 0 0 5 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 3 0 0 3
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 2
MGZ Medical Genetics Center 0 0 2 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 1 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 2 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 2
OMIM 1 0 0 0 0 1
Baylor Genetics 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 1
Molecular Diagnostic Laboratory, Beijing Chigene Translational Medicine Research Center 1 0 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.