ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.30C>T (p.Ala10=)

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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 RCV003780683 SCV004570386 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-01-18 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004005948 SCV004832849 likely benign Marfan syndrome 2023-04-10 criteria provided, single submitter clinical testing

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