Submissions for variant NM_001184880.2(PCDH19):c.655C>T (p.Leu219=)

gnomAD frequency: 0.00018  dbSNP: rs377627937

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000212832	SCV000111492	likely benign	not specified	2016-01-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000212832	SCV000170903	benign	not specified	2013-08-02	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.
Invitae	RCV000465730	SCV000559652	likely benign	Developmental and epileptic encephalopathy, 9	2024-01-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313763	SCV000849053	likely benign	Inborn genetic diseases	2016-03-24	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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	RCV000465730	SCV002799304	likely benign	Developmental and epileptic encephalopathy, 9	2022-03-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003925049	SCV004741059	likely benign	PCDH19-related condition	2019-03-11	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).