ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.5376C>T (p.Arg1792=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003184344 SCV003869391 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-02-10 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.
Invitae RCV003779616 SCV004678584 benign FG syndrome 2023-08-01 criteria provided, single submitter clinical testing

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