ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2646G>C (p.Ala882=)

dbSNP: rs376040442
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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 RCV001409658 SCV001611690 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-11-15 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006915 SCV004830059 likely benign Marfan syndrome 2023-06-08 criteria provided, single submitter clinical testing

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