ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5586T>C (p.His1862=)

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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 RCV002871858 SCV003235806 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-09-15 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004007649 SCV004827779 likely benign Marfan syndrome 2023-08-15 criteria provided, single submitter clinical testing

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