ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.1343A>G (p.Glu448Gly)

gnomAD frequency: 0.00001  dbSNP: rs1273711716
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV002267702 SCV002549881 uncertain significance Landau-Kleffner syndrome 2022-06-08 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PM1_SUP, PM2_SUP, BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV002267702 SCV003336907 likely benign Landau-Kleffner syndrome 2022-04-18 criteria provided, single submitter clinical testing

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