ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.5470_5471delinsAT (p.Cys1824Ile)

dbSNP: rs1555396205
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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 RCV000663786 SCV002025349 pathogenic Marfan syndrome 2021-03-01 criteria provided, single submitter research PM2, PVS2, PP4
Center for Medical Genetics Ghent, University of Ghent RCV000663786 SCV000787137 likely pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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