ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.939C>T (p.Ile313=) (rs146867324)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187624 SCV000241220 benign not specified 2014-10-24 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000416030 SCV000493159 likely benign not provided 2016-08-31 criteria provided, single submitter clinical testing
Invitae RCV000549011 SCV000638257 likely benign Epilepsy, focal, with speech disorder and with or without mental retardation 2017-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716247 SCV000847085 likely benign History of neurodevelopmental disorder 2016-07-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)

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