ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.2011-8C>G

gnomAD frequency: 0.00001  dbSNP: rs774971411
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000767989 SCV000898734 uncertain significance Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2021-11-11 criteria provided, single submitter clinical testing GRIN2B: NM_00834 exon 10 c.2011-8C>G: This variant has not been reported in the literature but is present in 3/33112 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs774971411). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant with no predicted change in the amino acid sequence but may have an unknown effect on splicing. Further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Invitae RCV000767989 SCV001664966 likely benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2023-10-24 criteria provided, single submitter clinical testing

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