ClinVar Miner

Variants studied for Early infantile epileptic encephalopathy 9

Coded as:
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
40 13 85 31 16 182

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 total
PCDH19 39 13 85 31 16 181
PCDH19, SRPX2, TNMD, TSPAN6 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 26 7 70 29 15 147
Genetic Services Laboratory, University of Chicago 2 1 10 0 0 13
OMIM 8 0 0 0 0 8
Center for Human Genetics, Inc 1 1 1 2 0 5
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 3 1 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 1 0 0 3
Baylor Genetics 1 0 1 0 0 2
Fulgent Genetics,Fulgent Genetics 1 0 1 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 1 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 1
Ege University Pediatric Genetics,Ege University 0 0 1 0 0 1
Laboratoire de Cytogenetique,Hospices Civils de Lyon 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.