ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.1287C>A (p.Cys429Ter)

dbSNP: rs747172511
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001283816 SCV001469222 likely pathogenic Intellectual disability, autosomal dominant 6 2020-05-06 no assertion criteria provided clinical testing

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