ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.2684_2685del (p.His895fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV003154636 SCV003843245 likely pathogenic Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2020-02-25 criteria provided, single submitter clinical testing

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