ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.1770A>C (p.Lys590Asn)

gnomAD frequency: 0.00001  dbSNP: rs563779542
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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 RCV000791582 SCV000930839 benign Landau-Kleffner syndrome 2022-12-03 criteria provided, single submitter clinical testing

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