ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.4179A>C (p.Ser1393=) (rs376058351)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000247788 SCV000319571 likely benign Cardiovascular phenotype 2015-04-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716617 SCV000847459 likely benign History of neurodevelopmental disorder 2015-04-14 criteria provided, single submitter clinical testing
GeneDx RCV000194870 SCV000250570 benign not specified 2015-06-25 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.
Genetic Services Laboratory, University of Chicago RCV000194870 SCV000248020 likely benign not specified 2016-06-30 criteria provided, single submitter clinical testing
Invitae RCV000466649 SCV000559589 likely benign FG syndrome 2017-06-13 criteria provided, single submitter clinical testing

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