ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.211A>G (p.Lys71Glu) (rs794727519)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177338 SCV000229185 uncertain significance not provided 2015-04-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719662 SCV000850532 likely benign History of neurodevelopmental disorder 2017-06-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Does not segregate with disease in family study (genes with incomplete penetrance)

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