ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.1005T>C (p.Thr335=) (rs145176345)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192317 SCV000247515 uncertain significance not specified 2014-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000192317 SCV000524105 likely benign not specified 2017-12-06 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.
Invitae RCV001089362 SCV000651691 likely benign Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720698 SCV000851578 likely benign History of neurodevelopmental disorder 2017-03-16 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
Athena Diagnostics Inc RCV000540707 SCV001144112 benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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