ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.480C>T (p.Gly160=) (rs150135875)

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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 RCV000153192 SCV000202663 benign not specified 2014-01-16 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000153192 SCV000247282 benign not specified 2016-01-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278830 SCV000478904 likely benign Kleefstra syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000859403 SCV000636622 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718901 SCV000849765 likely benign History of neurodevelopmental disorder 2016-10-28 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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