ClinVar Miner

Submissions for variant NM_021956.5(GRIK2):c.890C>G (p.Ser297Trp)

gnomAD frequency: 0.00070  dbSNP: rs61996330
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501131 SCV000595044 uncertain significance not specified 2016-11-24 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252248 SCV001427999 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003942635 SCV004773471 likely benign GRIK2-related disorder 2022-06-21 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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