ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4937G>T (p.Cys1646Phe)

dbSNP: rs397515814
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000786771 SCV000924707 likely pathogenic Marfan syndrome 2019-06-27 criteria provided, single submitter clinical testing

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