ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.1584G>A (p.Glu528=)

gnomAD frequency: 0.00510  dbSNP: rs116006955
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425016 SCV000523554 benign not specified 2016-02-09 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 RCV001086166 SCV000554324 benign Intellectual disability, autosomal dominant 8 2024-02-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000425016 SCV000595055 likely benign not specified 2016-09-15 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711869 SCV000842276 benign not provided 2018-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311483 SCV000847023 benign Inborn genetic diseases 2016-07-05 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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