ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.3735C>T (p.Arg1245=) (rs141797498)

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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 RCV000082236 SCV000114185 benign not specified 2013-08-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082236 SCV000247279 benign not specified 2016-02-18 criteria provided, single submitter clinical testing
Invitae RCV000324253 SCV000636615 benign Kleefstra syndrome 1 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719126 SCV000849990 benign History of neurodevelopmental disorder 2016-05-05 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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