ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.2845T>C (p.Tyr949His)

gnomAD frequency: 0.00003  dbSNP: rs201982602
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730550 SCV000858296 uncertain significance not provided 2017-11-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485878 SCV002786440 uncertain significance Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2022-01-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002485878 SCV003340650 benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2024-10-15 criteria provided, single submitter clinical testing
GenomeConnect - Simons Searchlight RCV001265250 SCV001443364 uncertain significance Complex neurodevelopmental disorder 2019-02-18 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2019-02-18 and interpreted as Variant of Uncertain significance. Variant was initially reported on 2015-08-26 by GTR ID of laboratory name 320384. The reporting laboratory might also submit to ClinVar.

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