ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.3530G>A (p.Gly1177Glu)

gnomAD frequency: 0.00001  dbSNP: rs745723771
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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 RCV001232900 SCV001405472 likely benign Landau-Kleffner syndrome 2024-04-18 criteria provided, single submitter clinical testing
GeneDx RCV001760240 SCV001990144 uncertain significance not provided 2024-12-20 criteria provided, single submitter clinical testing In silico analysis indicates 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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