ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.989-8G>A

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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 RCV003077886 SCV003468556 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-07-21 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004009378 SCV004832731 likely benign Marfan syndrome 2023-09-05 criteria provided, single submitter clinical testing

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