Submissions for variant NM_001330078.2(NRXN1):c.4068G>A (p.Thr1356=) (rs74714098)

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000117840	SCV000170819	benign	not specified	2012-05-23	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.
Illumina Clinical Services Laboratory,Illumina	RCV000280118	SCV000431187	likely benign	Pitt-Hopkins-like syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000473497	SCV000562372	benign	not provided	2019-03-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000716687	SCV000847529	benign	History of neurodevelopmental disorder	2016-04-15	criteria provided, single submitter	clinical testing	Lines of evidence used in support of classification: General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Genetic Services Laboratory, University of Chicago	RCV000117840	SCV000152110	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.