ClinVar Miner

Submissions for variant NM_000834.4(GRIN2B):c.1853T>G (p.Val618Gly) (rs672601376)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001172367 SCV001335422 likely pathogenic Mental retardation, autosomal dominant 6 2017-04-04 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).
OMIM RCV000149503 SCV000196143 pathogenic Epileptic encephalopathy, early infantile, 27 2014-01-01 no assertion criteria provided literature only

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