ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.1698C>T (p.Leu566=)

gnomAD frequency: 0.00001  dbSNP: rs367543142
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002055255 SCV002453248 likely benign Landau-Kleffner syndrome 2023-03-26 criteria provided, single submitter clinical testing
Psychiatry Genetics Yale University RCV000084762 SCV000116898 not provided not provided no assertion provided not provided

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