ClinVar Miner

Submissions for variant NM_004975.4(KCNB1):c.1222C>T (p.Pro408Ser)

dbSNP: rs1601071085
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Human Genetics, Universidade de São Paulo RCV000985159 SCV002506522 pathogenic Developmental and epileptic encephalopathy, 26 2022-03-16 criteria provided, single submitter research This variant meets our criteria to be classified as pathogenic based upon segregation studies, absence from controls, and in-silico evaluation of pathogenicity.
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985159 SCV001133159 likely pathogenic Developmental and epileptic encephalopathy, 26 2019-09-26 no assertion criteria provided clinical testing

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.