Submissions for variant NM_014141.6(CNTNAP2):c.1308C>T (p.Asn436=)

gnomAD frequency: 0.00749  dbSNP: rs79039458

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000116777	SCV000150753	benign	not specified	2018-12-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000116777	SCV000167791	benign	not specified	2013-08-06	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000473280	SCV000563242	benign	Cortical dysplasia-focal epilepsy syndrome	2025-02-02	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000116777	SCV000612856	benign	not specified	2016-09-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312078	SCV000846429	likely benign	Inborn genetic diseases	2016-04-15	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	RCV004704855	SCV005226888	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003915142	SCV004736283	benign	CNTNAP2-related disorder	2019-05-10	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).