ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.7252T>A (p.Cys2418Ser)

dbSNP: rs1555394441
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University Hospital Muenster RCV002254888 SCV002526116 likely pathogenic Marfan syndrome 2022-04-25 criteria provided, single submitter clinical testing ACMG categories: PM2,PM5,PP3,PP5

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