ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.4467T>A (p.Asn1489Lys) (rs193922205)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Medical Genetics Ghent,University of Ghent RCV000029738 SCV000787068 uncertain significance Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586485 SCV000695543 uncertain significance not specified 2016-01-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000586485 SCV000058845 uncertain significance not specified 2019-02-11 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
University of Washington Center for Mendelian Genomics,University of Washington RCV000755191 SCV000883020 likely pathogenic Familial thoracic aortic aneurysm; Acute aortic dissection 2016-01-20 no assertion criteria provided research

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