ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1057A>G (p.Ile353Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003803863 SCV004591486 benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-08-28 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006060 SCV004825656 uncertain significance Marfan syndrome 2023-05-31 criteria provided, single submitter clinical testing

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