ClinVar Miner

Submissions for variant NM_000834.4(GRIN2B):c.366C>G (p.Pro122=) (rs7301328)

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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 RCV000715254 SCV000846082 benign History of neurodevelopmental disorder 2016-01-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000117198 SCV000708996 benign not specified 2017-06-07 criteria provided, single submitter clinical testing
GeneDx RCV000117198 SCV000168766 benign not specified 2013-10-24 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.
Genetic Services Laboratory, University of Chicago RCV000117198 SCV000151362 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 RCV000259325 SCV000377131 likely benign Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing

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