ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.498C>G (p.Asp166Glu)

gnomAD frequency: 0.00001  dbSNP: rs1433795312
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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 RCV001217307 SCV001389141 likely benign Landau-Kleffner syndrome 2022-10-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004695199 SCV005194215 uncertain significance not provided criteria provided, single submitter not provided

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