ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.354T>G (p.Ser118=) (rs142271310)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082234 SCV000114183 benign not specified 2013-08-08 criteria provided, single submitter clinical testing
Invitae RCV000543474 SCV000636610 benign Chromosome 9q deletion syndrome 2018-01-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716533 SCV000847374 likely benign History of neurodevelopmental disorder 2016-08-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)

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