ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.3795G>T (p.Gln1265His)

gnomAD frequency: 0.00007  dbSNP: rs147556384
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498350 SCV000589418 likely benign not provided 2020-02-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001226922 SCV001399251 benign Landau-Kleffner syndrome 2024-01-17 criteria provided, single submitter clinical testing

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