ClinVar Miner

Submissions for variant NM_004830.4(MED23):c.2814G>A (p.Ala938=) (rs145230681)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501406 SCV000595766 likely benign not specified 2015-10-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715699 SCV000846530 likely benign History of neurodevelopmental disorder 2016-05-06 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)
Invitae RCV000960258 SCV001107218 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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