ClinVar Miner

Submissions for variant NM_000834.4(GRIN2B):c.1665C>T (p.Ser555=) (rs1805482)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715485 SCV000846314 benign History of neurodevelopmental disorder 2016-02-22 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711873 SCV000842281 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000615174 SCV000733145 benign Mental retardation, autosomal dominant 6 no assertion criteria provided clinical testing
Genetic Services Laboratory, University of Chicago RCV000117191 SCV000151355 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000615174 SCV000744080 benign Mental retardation, autosomal dominant 6 2017-07-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000315216 SCV000377123 likely benign Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing

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