Submissions for variant NM_001184880.2(PCDH19):c.1725C>T (p.Val575=)

gnomAD frequency: 0.00021  dbSNP: rs200471732

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000147073	SCV000170909	benign	not specified	2013-10-21	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	RCV000147073	SCV000194422	likely benign	not specified	2013-12-31	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000147073	SCV000224332	benign	not specified	2016-01-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079957	SCV000640259	benign	Developmental and epileptic encephalopathy, 9	2025-02-02	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000712506	SCV000843011	benign	not provided	2018-08-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000712506	SCV002063339	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	PCDH19: BP4, BP7, BS2
Ambry Genetics	RCV002399502	SCV002712484	likely benign	Inborn genetic diseases	2017-06-20	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Breakthrough Genomics, Breakthrough Genomics	RCV000712506	SCV005210701	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000712506	SCV001928653	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000712506	SCV001974635	likely benign	not provided		no assertion criteria provided	clinical testing