Submissions for variant NM_001184880.2(PCDH19):c.2938C>T (p.Arg980Cys)

gnomAD frequency: 0.00118  dbSNP: rs3764758

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000147077	SCV000170894	benign	not specified	2013-04-17	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	RCV000147077	SCV000194427	likely benign	not specified	2013-03-27	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000147077	SCV000231617	benign	not specified	2014-05-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000463342	SCV000559643	benign	Developmental and epileptic encephalopathy, 9	2025-02-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312911	SCV000847603	benign	Inborn genetic diseases	2016-07-18	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.