ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.525G>A (p.Ala175=) (rs77812749)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232465 SCV000289851 benign Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000616760 SCV000730814 benign not specified 2017-03-13 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.
Ambry Genetics RCV000717045 SCV000847890 likely benign History of neurodevelopmental disorder 2016-07-08 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)

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