ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.3857_3860del (p.Thr1286fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV003989470 SCV004808347 pathogenic Intellectual disability, autosomal dominant 6 2022-10-20 no assertion criteria provided clinical testing

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