ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.5418G>A (p.Pro1806=)

gnomAD frequency: 0.00001  dbSNP: rs770957462
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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 RCV000193892 SCV000248022 uncertain significance not specified 2015-06-23 criteria provided, single submitter clinical testing
GeneDx RCV001560061 SCV001782395 likely benign not provided 2020-02-27 criteria provided, single submitter clinical testing
Invitae RCV003765229 SCV003025259 benign FG syndrome 2022-03-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004020326 SCV005022889 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-01-05 criteria provided, single submitter clinical testing This alteration is classified as likely 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.

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