ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.4015A>G (p.Lys1339Glu)

gnomAD frequency: 0.00001  dbSNP: rs754686222
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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 RCV002082897 SCV002321726 likely benign Landau-Kleffner syndrome 2022-01-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003426294 SCV004141092 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing GRIN2A: BP4

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