Submissions for variant NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys) (rs61758995)

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000715474	SCV000846303	likely benign	History of neurodevelopmental disorder	2017-05-01	criteria provided, single submitter	clinical testing	Lines of evidence used in support of classification: Co-occurence with a mutation in another gene that clearly explains a proband's phenotype,No disease association in small case-control study
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics	RCV000419597	SCV000510655	likely benign	not provided	2017-02-06	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000117185	SCV000226046	benign	not specified	2017-12-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000117185	SCV000241225	benign	not specified	2014-06-09	criteria provided, single submitter	clinical testing	The variant is found in CHILD-EPI,EPILEPSY,INFANT-EPI panel(s).
Genetic Services Laboratory, University of Chicago	RCV000117185	SCV000151349	benign	not specified	2015-09-24	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000230705	SCV000400150	likely benign	Epilepsy, focal, with speech disorder and with or without mental retardation	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000230705	SCV000285632	benign	Epilepsy, focal, with speech disorder and with or without mental retardation	2017-12-18	criteria provided, single submitter	clinical testing
PreventionGenetics	RCV000117185	SCV000305563	benign	not specified		criteria provided, single submitter	clinical testing