ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.2611A>G (p.Ile871Val)

dbSNP: rs927932970
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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 RCV002029648 SCV002306054 likely benign Landau-Kleffner syndrome 2025-01-22 criteria provided, single submitter clinical testing
GeneDx RCV002272560 SCV002558289 uncertain significance not provided 2022-02-01 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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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