Submissions for variant NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=)

gnomAD frequency: 0.00942  dbSNP: rs56307810

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079612	SCV000111494	benign	not specified	2013-06-21	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000079612	SCV000194438	likely benign	not specified	2015-07-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000234669	SCV000286300	benign	Developmental and epileptic encephalopathy, 9	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311590	SCV000845908	benign	Inborn genetic diseases	2016-04-25	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.
GeneDx	RCV001711229	SCV001944899	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000234669	SCV002798424	likely benign	Developmental and epileptic encephalopathy, 9	2021-08-31	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001711229	SCV005210704	likely benign	not provided		criteria provided, single submitter	not provided