ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1715-14T>G

gnomAD frequency: 0.00001  dbSNP: rs753746089
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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 RCV001188747 SCV001355883 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-04-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001876208 SCV002297659 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-03-18 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004010304 SCV004824378 likely benign Marfan syndrome 2023-11-20 criteria provided, single submitter clinical testing

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