ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.2663C>T (p.Thr888Met)

gnomAD frequency: 0.00004  dbSNP: rs149698593
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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 RCV001225007 SCV001397242 likely benign Landau-Kleffner syndrome 2024-10-22 criteria provided, single submitter clinical testing
GeneDx RCV001586070 SCV001811767 likely benign not provided 2019-12-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29778030)

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