ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.1203G>A (p.Pro401=)

dbSNP: rs368546216
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002316691 SCV000850328 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-11-25 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.
GeneDx RCV001551311 SCV001771791 likely benign not provided 2021-01-18 criteria provided, single submitter clinical testing
Invitae RCV003768148 SCV002467308 benign FG syndrome 2024-01-06 criteria provided, single submitter clinical testing

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