ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.1807C>T (p.Leu603=)

gnomAD frequency: 0.00002  dbSNP: rs797045696
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192456 SCV000248015 uncertain significance not specified 2015-01-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002408857 SCV002713204 likely benign Familial thoracic aortic aneurysm and aortic dissection 2014-07-25 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003761810 SCV004551890 likely benign FG syndrome 2023-02-16 criteria provided, single submitter clinical testing

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