ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.4196A>G (p.His1399Arg)

dbSNP: rs1565452791
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000687919 SCV000815512 uncertain significance Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2021-08-31 criteria provided, single submitter clinical testing

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