ClinVar Miner

Submissions for variant NM_000834.4(GRIN2B):c.2514C>T (p.Cys838=) (rs3026160)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000324122 SCV000377115 likely benign Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710141 SCV000613553 benign not provided 2017-06-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715383 SCV000846212 benign History of neurodevelopmental disorder 2016-03-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117193 SCV000151357 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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