ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1585C>A (p.Arg529=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004803837 SCV005424904 likely benign Marfan syndrome 2024-04-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005221103 SCV005862305 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2025-01-18 criteria provided, single submitter clinical testing

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