ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1589-8G>T

dbSNP: rs779629563
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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 RCV000773869 SCV000907569 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-08-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002534100 SCV003463018 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-06-15 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004001334 SCV004826277 likely benign Marfan syndrome 2023-05-30 criteria provided, single submitter clinical testing

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