ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.7497_7498del (p.Cys2500_Val2501insTer)

dbSNP: rs397515852
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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 RCV000035272 SCV000058920 likely pathogenic Marfan syndrome 2010-12-09 criteria provided, single submitter clinical testing

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