ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2854G>C (p.Asp952His)

dbSNP: rs2141300251
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre of Medical Genetics, University of Antwerp RCV002246099 SCV002025551 likely pathogenic Marfan syndrome 2021-03-01 criteria provided, single submitter research PM2, PS1, PP4

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