ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.8016T>G (p.Cys2672Trp)

dbSNP: rs1057518883
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000414807 SCV000492818 likely pathogenic Protrusio acetabuli; Dental crowding; High palate; Tall stature; Mitral regurgitation; Aortic root aneurysm; Ectopia lentis 2015-06-02 criteria provided, single submitter clinical testing

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