ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.2050T>C (p.Cys684Arg) (rs1555399764)

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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 RCV000622113 SCV000738777 likely pathogenic Cardiovascular phenotype 2016-03-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting pathogenic classification,Rarity in general population databases (dbsnp, esp, 1000 genomes)
Center for Medical Genetics Ghent,University of Ghent RCV000663513 SCV000786820 likely pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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