Submissions for variant NM_014141.6(CNTNAP2):c.2892G>A (p.Ser964=)

gnomAD frequency: 0.00330  dbSNP: rs148104020

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081596	SCV000113527	benign	not specified	2013-08-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000081596	SCV000167799	benign	not specified	2013-01-14	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.
Genetic Services Laboratory, University of Chicago	RCV000081596	SCV000247062	benign	not specified	2018-12-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001085366	SCV000563255	benign	Cortical dysplasia-focal epilepsy syndrome	2025-02-02	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000711330	SCV000841671	likely benign	not provided	2017-11-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316254	SCV000850086	likely benign	Inborn genetic diseases	2016-03-21	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	RCV000711330	SCV005226901	likely benign	not provided		criteria provided, single submitter	not provided