ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.193C>T (p.Leu65=)

gnomAD frequency: 0.00004  dbSNP: rs753806713
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001433995 SCV001636793 likely benign Landau-Kleffner syndrome 2024-01-04 criteria provided, single submitter clinical testing

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