ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.222G>A (p.Met74Ile)

gnomAD frequency: 0.00004  dbSNP: rs553783914
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001763527 SCV001990992 uncertain significance not provided 2019-01-31 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV003581801 SCV004368580 likely benign Landau-Kleffner syndrome 2024-07-15 criteria provided, single submitter clinical testing

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