ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.140G>A (p.Gly47Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004012998 SCV004831316 uncertain significance Marfan syndrome 2023-04-27 criteria provided, single submitter clinical testing

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