ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1156_1167del (p.Asn386_Cys389del)

dbSNP: rs672601352
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Medical Genetics Ghent, University of Ghent RCV000149455 SCV000196099 pathogenic Marfan syndrome 2011-10-01 no assertion criteria provided clinical testing
Center for Medical Genetics Ghent, University of Ghent RCV000149455 SCV000786735 likely pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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