ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5697C>T (p.Ala1899=)

dbSNP: rs772617187
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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 RCV001805457 SCV002052991 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-03-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003772243 SCV004575923 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-01-03 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004009136 SCV004814639 likely benign Marfan syndrome 2023-03-28 criteria provided, single submitter clinical testing

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