ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.1140C>T (p.His380=) (rs753714929)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471283 SCV000559581 benign FG syndrome 1 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620849 SCV000739137 likely benign Cardiovascular phenotype 2016-01-21 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
CeGaT Praxis fuer Humangenetik Tuebingen RCV001090306 SCV001245760 likely benign not provided 2020-01-01 criteria provided, single submitter clinical testing

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