ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.949C>G (p.Gln317Glu)

dbSNP: rs2147540086
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genetics Bochum, Ruhr University Bochum RCV003887838 SCV004704527 uncertain significance Developmental and epileptic encephalopathy, 9 2023-09-13 criteria provided, single submitter clinical testing ACMG criteria used to clasify this variant: PM1, PM2_SUP, PP2

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.