Submissions for variant NM_001184880.2(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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000079607	SCV000111489	likely benign	not specified	2015-04-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000147080	SCV000194430	uncertain significance	Early infantile epileptic encephalopathy 9	2013-02-27	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	RCV000079607	SCV000248449	uncertain significance	not specified	2015-05-22	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.
Invitae	RCV000147080	SCV000559660	likely benign	Early infantile epileptic encephalopathy 9	2019-12-31	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000079607	SCV000614419	benign	not specified	2017-08-02	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc	RCV000147080	SCV000782229	likely benign	Early infantile epileptic encephalopathy 9	2016-11-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000720924	SCV000851808	benign	History of neurodevelopmental disorder	2017-06-27	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
Bioinformatics Core,Luxembourg Center for Systems Biomedicine	RCV000656077	SCV000588353	pathogenic	Rolandic epilepsy	2017-01-01	no assertion criteria provided	case-control	CAADphred>15

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.