ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1561_1562del (p.Ser521fs)

dbSNP: rs397515758
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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 RCV000035119 SCV000058759 likely pathogenic Marfan syndrome 2008-10-23 criteria provided, single submitter clinical testing

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