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

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Total submissions: 10

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
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
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	RCV000514244	SCV000341357	uncertain significance	not provided	2018-01-04	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000309897	SCV000400141	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.
Neurogenetics Laboratory - MEYER,AOU Meyer	RCV000417003	SCV000494553	uncertain significance	Focal epilepsy	2016-11-16	criteria provided, single submitter	clinical testing
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
Invitae	RCV000309897	SCV000638247	likely benign	Epilepsy, focal, with speech disorder and with or without mental retardation	2019-12-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000716120	SCV000846955	uncertain significance	History of neurodevelopmental disorder	2016-06-29	criteria provided, single submitter	clinical testing	Insufficient evidence
Mendelics	RCV000309897	SCV001139937	likely benign	Epilepsy, focal, with speech disorder and with or without mental retardation	2019-05-28	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000514244	SCV001144085	benign	not provided	2019-04-26	criteria provided, single submitter	clinical testing

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