ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.1479C>A (p.Thr493=)

dbSNP: rs202139349
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001489701 SCV001694251 likely benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2018-02-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003886453 SCV004702438 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing GRIN2B: PM2:Supporting, BP4, BP7

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