Submissions for variant NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser) (rs77029288)

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000187670	SCV000241267	benign	not specified	2017-01-11	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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000723931	SCV000331608	uncertain significance	not provided	2017-08-16	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000287434	SCV000400138	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.
Genetic Services Laboratory, University of Chicago	RCV000187670	SCV000595064	uncertain significance	not specified	2015-12-09	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000187670	SCV000613550	likely benign	not specified	2017-02-15	criteria provided, single submitter	clinical testing
Invitae	RCV000287434	SCV000638250	likely benign	Epilepsy, focal, with speech disorder and with or without mental retardation	2019-12-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000623372	SCV000740740	likely benign	Inborn genetic diseases	2016-05-23	criteria provided, single submitter	clinical testing	Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
Genome Diagnostics Laboratory,University Medical Center Utrecht	RCV000287434	SCV000743902	likely benign	Epilepsy, focal, with speech disorder and with or without mental retardation	2015-12-09	criteria provided, single submitter	clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center	RCV000287434	SCV000745335	likely benign	Epilepsy, focal, with speech disorder and with or without mental retardation	2017-06-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000719117	SCV000849981	benign	History of neurodevelopmental disorder	2019-04-26	criteria provided, single submitter	clinical testing	Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;In silico models in agreement (benign)
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen	RCV000287434	SCV000733559	likely benign	Epilepsy, focal, with speech disorder and with or without mental retardation		no assertion criteria provided	clinical testing