Submissions for variant NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly) (rs145063086)

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000716120	SCV000846955	uncertain significance	History of neurodevelopmental disorder	2016-06-29	criteria provided, single submitter	clinical testing	Lines of evidence used in support of classification: Insufficient evidence
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics	RCV000514244	SCV000609881	likely benign	not provided	2017-09-15	criteria provided, single submitter	clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000514244	SCV000341357	uncertain significance	not provided	2018-01-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000187665	SCV000241262	likely benign	not specified	2017-05-12	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	RCV000187665	SCV000247527	uncertain significance	not specified	2015-07-28	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000309897	SCV000400141	likely benign	Epilepsy, focal, with speech disorder and with or without mental retardation	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000309897	SCV000638247	likely benign	Epilepsy, focal, with speech disorder and with or without mental retardation	2017-12-18	criteria provided, single submitter	clinical testing
Neurogenetics Laboratory - MEYER,AOU Meyer	RCV000417003	SCV000494553	uncertain significance	Focal epilepsy	2016-11-16	criteria provided, single submitter	clinical testing