ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.2682delC (p.Ile895Tyrfs) (rs193922194)

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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 RCV000029717 SCV000786882 pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029717 SCV000052370 likely pathogenic Marfan syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.

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