ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.726A>T (p.Gly242=)

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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 RCV003528078 SCV004357487 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-03-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003779309 SCV004581720 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-11-15 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004011462 SCV004823113 likely benign Marfan syndrome 2023-12-13 criteria provided, single submitter clinical testing

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