ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=) (rs56307810)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079612 SCV000111494 benign not specified 2013-06-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000079612 SCV000194438 likely benign not specified 2015-07-29 criteria provided, single submitter clinical testing
Invitae RCV000234669 SCV000286300 benign Early infantile epileptic encephalopathy 9 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715083 SCV000845908 benign History of neurodevelopmental disorder 2016-04-25 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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.