Submissions for variant NM_001330078.2(NRXN1):c.501C>G (p.Leu167=)

gnomAD frequency: 0.00145  dbSNP: rs200248561

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000186644	SCV000170804	benign	not specified	2013-01-22	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)	RCV000186644	SCV000203149	likely benign	not specified	2015-10-06	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001085357	SCV000431219	likely benign	Pitt-Hopkins-like syndrome 2	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genetic Services Laboratory, University of Chicago	RCV000186644	SCV000596076	likely benign	not specified	2017-04-24	criteria provided, single submitter	clinical testing
Invitae	RCV001085357	SCV000651833	benign	Pitt-Hopkins-like syndrome 2	2024-01-25	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000712451	SCV000842948	likely benign	not provided	2017-09-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312910	SCV000847964	likely benign	Inborn genetic diseases	2016-06-15	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	RCV000712451	SCV004146143	likely benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	NRXN1: BP4
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000712451	SCV001930207	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000712451	SCV001975832	likely benign	not provided		no assertion criteria provided	clinical testing