ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.768G>C (p.Gly256=)

gnomAD frequency: 0.00059  dbSNP: rs141473515
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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 RCV000194689 SCV000247520 uncertain significance not specified 2015-02-10 criteria provided, single submitter clinical testing
GeneDx RCV000194689 SCV000519418 benign not specified 2016-12-08 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 RCV001079498 SCV000554322 benign Intellectual disability, autosomal dominant 8 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317687 SCV000851059 likely benign Inborn genetic diseases 2016-06-07 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Athena Diagnostics RCV000458354 SCV001144114 benign not provided 2018-11-29 criteria provided, single submitter clinical testing

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