Submissions for variant NM_001330078.2(NRXN1):c.3933A>G (p.Ala1311=)

gnomAD frequency: 0.00503  dbSNP: rs79970751

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000079527	SCV000170818	benign	not specified	2012-04-30	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.
Eurofins Ntd Llc (ga)	RCV000079527	SCV000345180	benign	not specified	2016-09-19	criteria provided, single submitter	clinical testing
Invitae	RCV001080183	SCV000562387	benign	Pitt-Hopkins-like syndrome 2	2024-01-30	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000079527	SCV000596062	likely benign	not specified	2017-01-12	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000710166	SCV000614363	likely benign	not provided	2018-03-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000715126	SCV000845952	likely benign	History of neurodevelopmental disorder	2016-05-03	criteria provided, single submitter	clinical testing	General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;Subpopulation frequency in support of benign classification;Synonymous alterations with insufficient evidence to classify as benign
Illumina Laboratory Services, Illumina	RCV001080183	SCV001303900	benign	Pitt-Hopkins-like syndrome 2	2017-05-21	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
CeGaT Center for Human Genetics Tuebingen	RCV000710166	SCV004146122	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	NRXN1: BP4, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000710166	SCV004563821	benign	not provided	2023-11-14	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000710166	SCV001740203	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000710166	SCV001973785	likely benign	not provided		no assertion criteria provided	clinical testing