ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4088-8T>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002578718 SCV002946652 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 RCV004007498 SCV004841106 likely benign Marfan syndrome 2023-10-02 criteria provided, single submitter clinical testing

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