ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.3492G>A (p.Thr1164=)

dbSNP: rs1330743809
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000608327 SCV000719782 likely benign not specified 2017-05-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002529572 SCV003236412 likely benign Landau-Kleffner syndrome 2022-09-23 criteria provided, single submitter clinical testing

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