ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6289G>T (p.Glu2097Ter)

dbSNP: rs397515831
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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, Mass General Brigham Personalized Medicine RCV000035240 SCV000058885 likely pathogenic Marfan syndrome 2009-05-12 criteria provided, single submitter clinical testing

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