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

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000117185	SCV000151349	benign	not specified	2015-09-24	criteria provided, single submitter	clinical testing
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).
Invitae	RCV000230705	SCV000285632	benign	Epilepsy, focal, with speech disorder and with or without mental retardation	2020-12-06	criteria provided, single submitter	clinical testing
PreventionGenetics,PreventionGenetics	RCV000117185	SCV000305563	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000230705	SCV000400150	benign	Epilepsy, focal, with speech disorder and with or without mental retardation	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
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.
Ambry Genetics	RCV000715474	SCV000846303	likely benign	History of neurodevelopmental disorder	2018-06-04	criteria provided, single submitter	clinical testing	Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;No disease association in small case-control study
Athena Diagnostics Inc	RCV000117185	SCV001475886	benign	not specified	2020-08-25	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000419597	SCV001926672	likely benign	not provided		no assertion criteria provided	clinical testing
Human Genetics - Radboudumc,Radboudumc	RCV000117185	SCV001959617	benign	not specified		no assertion criteria provided	clinical testing