Submissions for variant NM_014141.6(CNTNAP2):c.1311C>T (p.Ile437=)

gnomAD frequency: 0.00340  dbSNP: rs56356283

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000194347	SCV000202515	likely benign	not specified	2016-07-21	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000194347	SCV000247053	likely benign	not specified	2015-06-01	criteria provided, single submitter	clinical testing
Invitae	RCV000234647	SCV000289926	benign	Cortical dysplasia-focal epilepsy syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000297884	SCV000467237	uncertain significance	Pitt-Hopkins-like syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000234647	SCV000467238	uncertain significance	Cortical dysplasia-focal epilepsy syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000711326	SCV000841667	benign	not provided	2017-11-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312673	SCV000847251	likely benign	Inborn genetic diseases	2016-08-16	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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	RCV000711326	SCV001946049	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000711326	SCV002545574	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	CNTNAP2: BP4, BP7, BS2
PreventionGenetics, part of Exact Sciences	RCV003917492	SCV004735671	benign	CNTNAP2-related condition	2023-01-05	criteria provided, single submitter	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).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000194347	SCV001929444	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000711326	SCV001971075	likely benign	not provided		no assertion criteria provided	clinical testing