ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1725C>T (p.Val575=) (rs200471732)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000147073 SCV000170909 benign not specified 2013-10-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000147073 SCV000194422 likely benign not specified 2013-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000147073 SCV000224332 benign not specified 2016-01-07 criteria provided, single submitter clinical testing
Invitae RCV001079957 SCV000640259 benign Early infantile epileptic encephalopathy 9 2020-12-05 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712506 SCV000843011 benign not provided 2018-08-15 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000712506 SCV001928653 likely benign not provided 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.