ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.3111G>A (p.Thr1037=)

gnomAD frequency: 0.00007  dbSNP: rs185658730
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003761381 SCV001723231 benign FG syndrome 2023-11-10 criteria provided, single submitter clinical testing
GeneDx RCV001581167 SCV001812964 likely benign not provided 2020-09-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV004641667 SCV005133847 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-03-29 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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