ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2040A>G (p.Lys680=)

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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 RCV004803832 SCV005424893 likely benign Marfan syndrome 2024-05-14 criteria provided, single submitter clinical testing

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