ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.1149C>T (p.Gly383=)

gnomAD frequency: 0.00001  dbSNP: rs138398771
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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 RCV000870589 SCV001012098 benign Intellectual disability, autosomal dominant 8 2023-12-25 criteria provided, single submitter clinical testing
GeneDx RCV001558616 SCV001780606 likely benign not provided 2019-12-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001558616 SCV004164008 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing GRIN1: BP4, BP7

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