ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.2626A>G (p.Ile876Val)

gnomAD frequency: 0.00001  dbSNP: rs1399604502
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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 RCV001998049 SCV002251550 likely benign Landau-Kleffner syndrome 2022-07-19 criteria provided, single submitter clinical testing
GeneDx RCV002291793 SCV002584166 uncertain significance not provided 2022-10-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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