ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6947G>A (p.Cys2316Tyr)

dbSNP: rs1555394629
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre of Medical Genetics, University of Antwerp RCV000663914 SCV002025426 pathogenic Marfan syndrome 2021-03-01 criteria provided, single submitter research PM2, PVS2, PP4
Center for Medical Genetics Ghent, University of Ghent RCV000663914 SCV000787282 likely pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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