ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.4017A>G (p.Lys1339=)

gnomAD frequency: 0.00001  dbSNP: rs751221611
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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 RCV001502134 SCV001706959 likely benign Landau-Kleffner syndrome 2020-04-13 criteria provided, single submitter clinical testing

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