ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.228C>T (p.Thr76=)

gnomAD frequency: 0.00070  dbSNP: rs77299791
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125319 SCV000168765 benign not specified 2014-02-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001079626 SCV000562281 benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2024-01-22 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000604796 SCV000745555 likely benign Intellectual disability, autosomal dominant 6 2017-06-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312883 SCV000849060 likely benign Inborn genetic diseases 2017-02-20 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.
Athena Diagnostics RCV000476684 SCV001144115 benign not provided 2018-11-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000476684 SCV004134484 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing GRIN2B: BP4, BP7, BS1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000604796 SCV000733146 likely benign Intellectual disability, autosomal dominant 6 no assertion criteria provided clinical testing

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