ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.3627G>A (p.Gln1209=)

gnomAD frequency: 0.00001  dbSNP: rs1191216428
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000614344 SCV000722136 likely benign not provided 2020-08-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002064019 SCV002444198 likely benign Landau-Kleffner syndrome 2021-05-19 criteria provided, single submitter clinical testing

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