ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.2259G>A (p.Arg753=)

gnomAD frequency: 0.01916  dbSNP: rs61752446
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117598 SCV000151825 benign not specified 2013-07-08 criteria provided, single submitter clinical testing
GeneDx RCV000117598 SCV000250589 benign not specified 2014-09-04 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 RCV004019641 SCV000319533 benign Familial thoracic aortic aneurysm and aortic dissection 2015-07-20 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV003764825 SCV000559582 benign FG syndrome 2024-02-01 criteria provided, single submitter clinical testing

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