ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.6841C>T (p.Gln2281Ter) (rs397515840)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035256 SCV000058903 likely pathogenic Marfan syndrome 2009-03-12 criteria provided, single submitter clinical testing

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