ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.264C>T (p.Tyr88=)

gnomAD frequency: 0.00001  dbSNP: rs199679287
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001671208 SCV001885202 benign not provided 2020-07-06 criteria provided, single submitter clinical testing
Invitae RCV002539662 SCV003289839 benign Intellectual disability, autosomal dominant 8 2023-11-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001671208 SCV004163999 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing GRIN1: BP4, BP7

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