ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.357G>A (p.Leu119=)

gnomAD frequency: 0.00001  dbSNP: rs201475721
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193451 SCV000247519 likely benign not specified 2015-09-25 criteria provided, single submitter clinical testing
GeneDx RCV000840921 SCV000982867 likely benign not provided 2018-03-21 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 RCV002517077 SCV003280672 likely benign Intellectual disability, autosomal dominant 8 2022-08-03 criteria provided, single submitter clinical testing

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