Submissions for variant NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly)

gnomAD frequency: 0.00123  dbSNP: rs191333060

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079607	SCV000111489	likely benign	not specified	2015-04-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000434675	SCV000241933	likely benign	not provided	2021-04-06	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 22267240, 19214208)
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	Developmental and epileptic encephalopathy, 9	2024-01-27	criteria provided, single submitter	clinical testing
Athena Diagnostics	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	Developmental and epileptic encephalopathy, 9	2016-11-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316236	SCV000851808	benign	Inborn genetic diseases	2017-06-27	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
MGZ Medical Genetics Center	RCV000147080	SCV002581145	likely benign	Developmental and epileptic encephalopathy, 9	2022-07-25	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000147080	SCV000248449	likely benign	Developmental and epileptic encephalopathy, 9	2015-05-22	no assertion criteria provided	clinical testing
Bioinformatics Core, Luxembourg Center for Systems Biomedicine	RCV000656077	SCV000588353	pathogenic	Childhood epilepsy with centrotemporal spikes	2017-01-01	no assertion criteria provided	case-control	CAADphred>15