ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.1513C>T (p.Leu505=)

gnomAD frequency: 0.00051  dbSNP: rs139637382
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001311044 SCV000521963 benign not provided 2021-10-29 criteria provided, single submitter clinical testing
Invitae RCV000460308 SCV000554328 benign Intellectual disability, autosomal dominant 8 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313066 SCV000849303 likely benign Inborn genetic diseases 2015-12-31 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.
CeGaT Center for Human Genetics Tuebingen RCV001311044 SCV001501070 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing GRIN1: BP4, BP7
Genetic Services Laboratory, University of Chicago RCV001821173 SCV002072283 benign not specified 2017-11-07 criteria provided, single submitter clinical testing

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