ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.3799G>T (p.Ala1267Ser)

gnomAD frequency: 0.00029  dbSNP: rs141844705
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721199 SCV000241317 benign not provided 2019-09-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20890276, 24272827, 27818011)
Labcorp Genetics (formerly Invitae), Labcorp RCV000545494 SCV000659537 benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2023-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354528 SCV002622725 likely benign Inborn genetic diseases 2018-07-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV001721199 SCV004042539 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing GRIN2B: BP4, BS2

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