ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.6970G>A (p.Ala2324Thr) (rs148831709)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029771 SCV000052424 likely pathogenic Marfan syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769623 SCV000901020 uncertain significance Thoracic aortic aneurysm and aortic dissection 2017-10-25 criteria provided, single submitter clinical testing
Center for Medical Genetics Ghent,University of Ghent RCV000029771 SCV000787287 uncertain significance Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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