ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1078G>A (p.Glu360Lys)

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
Pediatric Department, Peking University First Hospital RCV002291244 SCV002583538 likely pathogenic Developmental and epileptic encephalopathy, 9 2022-06-01 criteria provided, single submitter research
GeneDx RCV004729143 SCV005333789 likely pathogenic not provided 2022-05-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: WENJUAN2020[ARTICLE])

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.