Submissions for variant NM_014141.6(CNTNAP2):c.2280A>G (p.Ser760=)

gnomAD frequency: 0.22240  dbSNP: rs10240503

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081593	SCV000113524	benign	not specified	2013-05-17	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000081593	SCV000312068	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000322991	SCV000467269	benign	Cortical dysplasia-focal epilepsy syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000377524	SCV000467270	benign	Pitt-Hopkins-like syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000322991	SCV000677259	benign	Cortical dysplasia-focal epilepsy syndrome	2017-04-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311649	SCV000845864	benign	Inborn genetic diseases	2016-03-11	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Invitae	RCV000322991	SCV001730074	benign	Cortical dysplasia-focal epilepsy syndrome	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001650924	SCV001865631	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000081593	SCV000150760	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000081593	SCV001742735	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000081593	SCV001927112	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000081593	SCV001969138	benign	not specified		no assertion criteria provided	clinical testing