Submissions for variant NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=)

gnomAD frequency: 0.00228  dbSNP: rs193148631

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000147086	SCV000170910	benign	not specified	2012-12-19	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	RCV000147086	SCV000194442	uncertain significance	not specified	2014-10-31	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000147086	SCV000231001	benign	not specified	2014-11-18	criteria provided, single submitter	clinical testing
Invitae	RCV000233996	SCV000286297	benign	Developmental and epileptic encephalopathy, 9	2024-02-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000416088	SCV000493317	uncertain significance	not provided	2017-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312582	SCV000845969	likely benign	Inborn genetic diseases	2016-06-15	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.
PreventionGenetics, part of Exact Sciences	RCV003935201	SCV004752672	likely benign	PCDH19-related condition	2019-04-05	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).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000233996	SCV000734796	likely benign	Developmental and epileptic encephalopathy, 9		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000416088	SCV001966543	likely benign	not provided		no assertion criteria provided	clinical testing