ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.3465_3466delinsAAG (p.Asp1155fs)

dbSNP: rs1555398527
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Medical Genetics Ghent, University of Ghent RCV000663643 SCV000786967 likely pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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