ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6807T>A (p.Ile2269=)

dbSNP: rs1566894280
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001524775 SCV001734726 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-11-02 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004804216 SCV005424705 likely benign Marfan syndrome 2024-03-05 criteria provided, single submitter clinical testing

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