Submissions for variant NM_014141.6(CNTNAP2):c.2508T>C (p.Phe836=)

gnomAD frequency: 0.00072  dbSNP: rs149185385

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000186620	SCV000167797	benign	not specified	2013-05-23	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.
Eurofins Ntd Llc (ga)	RCV000723806	SCV000202517	uncertain significance	not provided	2014-01-13	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000186620	SCV000312069	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000313460	SCV000467277	uncertain significance	Cortical dysplasia-focal epilepsy syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000368109	SCV000467278	uncertain significance	Pitt-Hopkins-like syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000186620	SCV000594170	likely benign	not specified	2016-12-07	criteria provided, single submitter	clinical testing
Invitae	RCV000313460	SCV000766454	likely benign	Cortical dysplasia-focal epilepsy syndrome	2024-01-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312828	SCV000847833	likely benign	Inborn genetic diseases	2016-09-15	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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000723806	SCV001929085	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000723806	SCV001976219	likely benign	not provided		no assertion criteria provided	clinical testing