ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.879C>G (p.His293Gln)

dbSNP: rs746040843
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001920916 SCV002193879 benign Intellectual disability, autosomal dominant 8 2022-10-17 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003134241 SCV003815178 uncertain significance not provided 2021-06-25 criteria provided, single submitter clinical testing
GeneDx RCV003134241 SCV004031807 uncertain significance not provided 2023-08-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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