ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.4488C>T (p.Arg1496=)

gnomAD frequency: 0.00012  dbSNP: rs531754497
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192683 SCV000248021 uncertain significance not specified 2014-10-24 criteria provided, single submitter clinical testing
GeneDx RCV001721258 SCV000721841 benign not provided 2020-06-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314833 SCV000739131 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV003761812 SCV001003624 benign FG syndrome 2023-12-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003985301 SCV004760459 likely benign MED12-related disorder 2023-05-16 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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