ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1977C>T (p.Ser659=)

gnomAD frequency: 0.00001  dbSNP: rs750118053
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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 RCV001524991 SCV001734977 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-02-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002568804 SCV003253179 benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-12-12 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008814 SCV004814930 likely benign Marfan syndrome 2023-11-02 criteria provided, single submitter clinical testing

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