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
Ambry Genetics RCV000715400 SCV000846229 benign History of neurodevelopmental disorder 2016-01-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000084723 SCV000842288 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
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.
Illumina Clinical Services Laboratory,Illumina RCV000283342 SCV000377097 likely benign Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Psychiatry Genetics Yale University RCV000084723 SCV000116859 not provided not provided no assertion provided not provided

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