ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.900C>T (p.Thr300=) (rs143669998)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000718072 SCV000848934 likely benign History of neurodevelopmental disorder 2016-05-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000125304 SCV000168749 benign not specified 2014-02-04 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.
Illumina Clinical Services Laboratory,Illumina RCV000284175 SCV000394708 likely benign Epilepsy, focal, with speech disorder and with or without mental retardation 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000284175 SCV000562538 benign Epilepsy, focal, with speech disorder and with or without mental retardation 2017-09-08 criteria provided, single submitter clinical testing

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