ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.705C>T (p.Ala235=) (rs201343933)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488242 SCV000575608 uncertain significance not provided 2016-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719305 SCV000850171 likely benign History of neurodevelopmental disorder 2016-09-01 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)
Invitae RCV001081647 SCV001007538 likely benign Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 2019-12-31 criteria provided, single submitter clinical testing

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