Submissions for variant NM_001330078.2(NRXN1):c.1575A>G (p.Arg525=) (rs201941844)

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000127241	SCV000170796	benign	not specified	2013-05-13	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.
Genetic Services Laboratory, University of Chicago	RCV000127241	SCV000248274	uncertain significance	not specified	2015-01-30	criteria provided, single submitter	clinical testing
Invitae	RCV001082810	SCV000651810	benign	Pitt-Hopkins-like syndrome 2	2020-11-11	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000712449	SCV000842945	likely benign	not provided	2018-03-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000717983	SCV000848844	likely benign	History of neurodevelopmental disorder	2017-01-17	criteria provided, single submitter	clinical testing	Synonymous alterations with insufficient evidence to classify as benign
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000712449	SCV001931767	likely benign	not provided		no assertion criteria provided	clinical testing