Submissions for variant NM_001184880.2(PCDH19):c.1137C>T (p.Gly379=)

gnomAD frequency: 0.01073  dbSNP: rs56277715

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079602	SCV000111484	benign	not specified	2013-04-16	criteria provided, single submitter	clinical testing
GeneDx	RCV000079602	SCV000170906	benign	not specified	2012-03-26	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	RCV000079602	SCV000194418	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Invitae	RCV000227839	SCV000286298	benign	Developmental and epileptic encephalopathy, 9	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000079602	SCV000306975	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313761	SCV000847918	benign	Inborn genetic diseases	2016-06-08	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.
Fulgent Genetics, Fulgent Genetics	RCV000227839	SCV002812032	likely benign	Developmental and epileptic encephalopathy, 9	2021-10-20	criteria provided, single submitter	clinical testing