ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4791A>C (p.Pro1597=)

dbSNP: rs2043316050
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001188237 SCV001355255 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002559147 SCV003459201 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-05-09 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004010269 SCV004814694 likely benign Marfan syndrome 2023-11-30 criteria provided, single submitter clinical testing

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