Submissions for variant NM_001184880.2(PCDH19):c.1627C>T (p.Leu543=)

gnomAD frequency: 0.19198  dbSNP: rs1953337

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079603	SCV000111485	benign	not specified	2014-01-08	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000079603	SCV000194420	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000079603	SCV000306976	benign	not specified		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000600298	SCV000604613	benign	Developmental and epileptic encephalopathy, 9	2023-11-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311586	SCV000845866	benign	Inborn genetic diseases	2016-03-02	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.
Invitae	RCV000600298	SCV001725594	benign	Developmental and epileptic encephalopathy, 9	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001538600	SCV001756274	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000600298	SCV002795593	benign	Developmental and epileptic encephalopathy, 9	2021-12-23	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000600298	SCV000734797	benign	Developmental and epileptic encephalopathy, 9		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000079603	SCV001926499	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000079603	SCV001955508	benign	not specified		no assertion criteria provided	clinical testing