ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6617-9_6617-8inv

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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 RCV000035247 SCV000058893 likely pathogenic Marfan syndrome 2010-06-25 criteria provided, single submitter clinical testing

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