ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.183C>T (p.Ser61=) (rs774448433)

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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 RCV000723982 SCV000229189 uncertain significance not provided 2014-05-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000277991 SCV000478895 uncertain significance Kleefstra syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000177342 SCV000594509 likely benign not specified 2016-08-18 criteria provided, single submitter clinical testing

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