ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2232G>T (p.Gly744=)

dbSNP: rs762745991
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001187971 SCV001354913 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-03-24 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008754 SCV004814905 likely benign Marfan syndrome 2023-11-28 criteria provided, single submitter clinical testing

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