ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.1368C>T (p.Leu456=) (rs45450992)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082216 SCV000114165 benign not specified 2012-07-18 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082216 SCV000314443 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000349834 SCV000478925 benign Kleefstra syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715069 SCV000845893 benign History of neurodevelopmental disorder 2016-03-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082216 SCV000151071 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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