Submissions for variant NM_014141.6(CNTNAP2):c.1566G>A (p.Gln522=)

dbSNP: rs535454043

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000124361	SCV000167792	benign	not specified	2013-06-28	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	RCV000124361	SCV000247054	uncertain significance	not specified	2015-01-15	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000124361	SCV000335120	likely benign	not specified	2015-09-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001518149	SCV001726796	benign	Cortical dysplasia-focal epilepsy syndrome	2024-01-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002399494	SCV002707224	likely benign	Inborn genetic diseases	2017-12-17	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.