ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.1947G>A (p.Ser649=) (rs139206060)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000271939 SCV000339798 uncertain significance not provided 2016-03-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000401622 SCV000478932 likely benign Kleefstra syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000271939 SCV000636579 benign not provided 2018-07-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718542 SCV000849406 likely benign History of neurodevelopmental disorder 2017-05-18 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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