ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.347-2A>G (rs1555405056)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620338 SCV000738799 pathogenic Cardiovascular phenotype 2017-07-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Deficient protein function in appropriate functional assay(s),Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity
Center for Medical Genetics Ghent,University of Ghent RCV000663644 SCV000786968 likely pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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