ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.3780G>A (p.Glu1260=)

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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 RCV003528037 SCV004357401 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-06-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003779305 SCV004577788 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-12-17 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004011452 SCV004831059 likely benign Marfan syndrome 2023-08-15 criteria provided, single submitter clinical testing

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