ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4401G>T (p.Leu1467=)

gnomAD frequency: 0.00001  dbSNP: rs747377334
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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 RCV000951620 SCV001098033 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-08-22 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001191076 SCV001358749 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-04-06 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004004350 SCV004814733 likely benign Marfan syndrome 2024-02-05 criteria provided, single submitter clinical testing

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