ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.1481G>C (p.Cys494Ser) (rs1057518881)

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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 Medical Genetics Ghent,University of Ghent RCV000663463 SCV000786757 likely pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000594033 SCV000709227 uncertain significance not provided 2017-06-23 criteria provided, single submitter clinical testing

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