Submissions for variant NM_014141.6(CNTNAP2):c.837G>A (p.Val279=)

gnomAD frequency: 0.00019  dbSNP: rs143507886

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000187147	SCV000240723	benign	not specified	2014-06-30	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.
Illumina Laboratory Services, Illumina	RCV000387854	SCV000467227	uncertain significance	Cortical dysplasia-focal epilepsy syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000295666	SCV000467228	uncertain significance	Pitt-Hopkins-like syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000387854	SCV001007696	likely benign	Cortical dysplasia-focal epilepsy syndrome	2024-12-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002433835	SCV002677893	likely benign	Inborn genetic diseases	2019-03-18	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.
CeGaT Center for Human Genetics Tuebingen	RCV004808612	SCV005431600	likely benign	not provided	2024-09-01	criteria provided, single submitter	clinical testing	CNTNAP2: BP4, BP7