ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.1335G>A (p.Arg445=) (rs1564697340)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000719317 SCV000850183 likely benign History of neurodevelopmental disorder 2016-09-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign

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