ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.816A>G (p.Lys272=)

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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 RCV003799325 SCV004586346 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-09-19 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006048 SCV004828678 likely benign Marfan syndrome 2023-09-17 criteria provided, single submitter clinical testing

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