ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.2735C>G (p.Ser912Cys)

gnomAD frequency: 0.00005  dbSNP: rs200588845
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703840 SCV000524771 likely benign not provided 2019-04-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25368549)
Labcorp Genetics (formerly Invitae), Labcorp RCV000559359 SCV000638232 likely benign Landau-Kleffner syndrome 2024-06-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004739728 SCV005367205 likely benign GRIN2A-related disorder 2024-08-24 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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