ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.1273del (p.Pro424_Leu425insTer)

dbSNP: rs879253760
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000234913 SCV000292241 uncertain significance Intellectual disability 2016-02-24 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV002286727 SCV002577604 likely pathogenic Landau-Kleffner syndrome 2022-03-29 criteria provided, single submitter clinical testing PVS1, PM2

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