ClinVar Miner

Submissions for variant NM_001184880.1(PCDH19):c.3319C>G (p.Arg1107Gly) (rs191333060)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000720924 SCV000851808 benign History of neurodevelopmental disorder 2017-06-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000079607 SCV000614419 benign not specified 2017-08-02 criteria provided, single submitter clinical testing
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000656077 SCV000588353 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15
Center for Human Genetics, Inc RCV000147080 SCV000782229 likely benign Early infantile epileptic encephalopathy 9 2016-11-01 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000434675 SCV000511395 likely benign not provided 2017-02-13 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079607 SCV000111489 likely benign not specified 2015-04-03 criteria provided, single submitter clinical testing
GeneDx RCV000079607 SCV000241933 likely benign not specified 2018-02-01 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 RCV000147080 SCV000194430 uncertain significance Early infantile epileptic encephalopathy 9 2013-02-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079607 SCV000248449 uncertain significance not specified 2015-05-22 criteria provided, single submitter clinical testing
Invitae RCV000147080 SCV000559660 likely benign Early infantile epileptic encephalopathy 9 2017-11-08 criteria provided, single submitter 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.