Submissions for variant NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val)

gnomAD frequency: 0.00151  dbSNP: rs184545774

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000179377	SCV000170897	benign	not specified	2013-06-14	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.
Eurofins Ntd Llc (ga)	RCV000179377	SCV000231615	benign	not specified	2015-02-23	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000179377	SCV000248448	benign	not specified	2017-03-03	criteria provided, single submitter	clinical testing
Invitae	RCV000457399	SCV000559648	likely benign	Developmental and epileptic encephalopathy, 9	2024-01-29	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000457399	SCV000782228	likely benign	Developmental and epileptic encephalopathy, 9	2016-11-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312912	SCV000847573	benign	Inborn genetic diseases	2018-05-22	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000457399	SCV004564150	likely benign	Developmental and epileptic encephalopathy, 9	2023-10-09	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000457399	SCV000734795	likely benign	Developmental and epileptic encephalopathy, 9		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573441	SCV001799334	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000179377	SCV001931285	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573441	SCV001965546	likely benign	not provided		no assertion criteria provided	clinical testing