ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.2499C>T (p.Ile833=)

gnomAD frequency: 0.00004  dbSNP: rs146086141
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194742 SCV000247517 uncertain significance not specified 2015-07-28 criteria provided, single submitter clinical testing
GeneDx RCV001697233 SCV000723375 likely benign not provided 2021-02-09 criteria provided, single submitter clinical testing
Invitae RCV000649668 SCV000771497 likely benign Intellectual disability, autosomal dominant 8 2023-10-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426923 SCV002741084 likely benign Inborn genetic diseases 2018-06-22 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.

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