ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.3554G>A (p.Gly1185Asp)

dbSNP: rs1555398512
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre of Medical Genetics, University of Antwerp RCV000663650 SCV002025281 likely pathogenic Marfan syndrome 2021-03-01 criteria provided, single submitter research PM2, PS6, PP4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV000663650 SCV002577409 pathogenic Marfan syndrome 2022-06-20 criteria provided, single submitter clinical testing PM2, PP2, PP3, PP5
Center for Medical Genetics Ghent, University of Ghent RCV000663650 SCV000786977 uncertain significance Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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