ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.285G>A (p.Ser95=)

gnomAD frequency: 0.00001  dbSNP: rs745596276
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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 RCV001184280 SCV001350227 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-10-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003769340 SCV004577749 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-01-11 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004004433 SCV004823144 likely benign Marfan syndrome 2023-10-02 criteria provided, single submitter clinical testing

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