ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.7022_7023del (p.Thr2341fs)

dbSNP: rs1555394579
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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 RCV000663923 SCV000787292 likely pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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