ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.8416dup (p.Ile2806fs)

dbSNP: rs1555393538
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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 Human Genetics, Inc, Center for Human Genetics, Inc RCV000659587 SCV000781426 pathogenic Marfan syndrome 2016-11-01 criteria provided, single submitter clinical testing
Center for Medical Genetics Ghent, University of Ghent RCV000659587 SCV000787414 uncertain significance Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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