ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.4290T>G (p.Pro1430=)

gnomAD frequency: 0.00001  dbSNP: rs756705691
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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 RCV002096070 SCV002397140 likely benign Landau-Kleffner syndrome 2023-09-03 criteria provided, single submitter clinical testing

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