ClinVar Miner

Submissions for variant NM_000834.4(GRIN2B):c.4197T>C (p.His1399=) (rs1805247)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000084723 SCV000842288 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715400 SCV000846229 benign History of neurodevelopmental disorder 2016-01-08 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
Invitae RCV001519994 SCV001728969 benign Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27 2020-12-03 criteria provided, single submitter clinical testing
Psychiatry Genetics Yale University RCV000084723 SCV000116859 not provided not provided no assertion provided not provided
Genetic Services Laboratory, University of Chicago RCV000117200 SCV000151364 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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