ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.5190G>C (p.Leu1730=)

gnomAD frequency: 0.00004  dbSNP: rs753355369
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704398 SCV000529413 likely benign not provided 2018-08-17 criteria provided, single submitter clinical testing
Invitae RCV003766334 SCV001722080 benign FG syndrome 2023-08-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002339060 SCV002641497 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-04-06 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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