ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.8500A>G (p.Thr2834Ala)

dbSNP: rs1284038548
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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 RCV001914746 SCV002138041 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-08-23 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004009256 SCV004826209 uncertain significance Marfan syndrome 2023-08-15 criteria provided, single submitter clinical testing

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