ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.2011-5T>C

dbSNP: rs2136416046
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001434317 SCV001637122 likely benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2020-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002420982 SCV002720507 uncertain significance Inborn genetic diseases 2018-07-25 criteria provided, single submitter clinical testing The c.2011-5T>C intronic variant results from a T to C substitution 5 nucleotides upstream from coding exon 9 in the GRIN2B gene. This nucleotide position is well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor/donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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