ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.1237G>A (p.Glu413Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine RCV002466330 SCV002761285 likely pathogenic Intellectual disability, autosomal dominant 6 2022-02-03 criteria provided, single submitter clinical testing

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