ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2817T>C (p.Ser939=)

dbSNP: rs1254659886
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000632040 SCV000753143 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-10-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001190265 SCV001357716 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-04-26 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003821 SCV004814866 likely benign Marfan syndrome 2023-12-13 criteria provided, single submitter clinical testing

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