ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.5805C>T (p.Ser1935=) (rs201608537)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420285 SCV000534462 likely benign not specified 2017-08-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000619840 SCV000739151 likely benign Cardiovascular phenotype 2017-10-23 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;Subpopulation frequency in support of benign classification
Invitae RCV000868192 SCV001009493 benign FG syndrome 1 2019-12-31 criteria provided, single submitter clinical testing

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