ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.3483T>C (p.Ser1161=)

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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 RCV002457385 SCV002616052 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-05-17 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 RCV003775641 SCV003027962 benign FG syndrome 2023-07-28 criteria provided, single submitter clinical testing

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