ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5699G>T (p.Cys1900Phe)

dbSNP: rs794728237
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Excellence for Medical Genomics, Chulalongkorn University RCV000663809 SCV002583257 likely pathogenic Marfan syndrome 2022-10-05 criteria provided, single submitter research
Center for Medical Genetics Ghent, University of Ghent RCV000663809 SCV000787161 pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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