ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.378A>C (p.Gly126=)

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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 RCV002571779 SCV002929650 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-03-24 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004007483 SCV004829993 likely benign Marfan syndrome 2023-11-02 criteria provided, single submitter clinical testing

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