ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.3016G>A (p.Val1006Met) (rs33999936)

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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 RCV000082228 SCV000114177 benign not specified 2012-12-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082228 SCV000247274 likely benign not specified 2015-06-29 criteria provided, single submitter clinical testing
Invitae RCV000550854 SCV000636599 benign Kleefstra syndrome 1 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717114 SCV000847960 likely benign History of neurodevelopmental disorder 2018-07-24 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification

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