ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.3115T>C (p.Cys1039Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV003314514 SCV004013966 likely pathogenic Marfan syndrome 2022-10-17 criteria provided, single submitter clinical testing PM2, PM5, PP2, PP3

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