ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.465C>A (p.Leu155=)

gnomAD frequency: 0.00001  dbSNP: rs1287033860
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002083836 SCV002380222 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2021-07-13 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004808204 SCV005426113 likely benign Marfan syndrome 2024-04-16 criteria provided, single submitter clinical testing

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