ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.5788+5G>T (rs193922219)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029757 SCV000052410 uncertain Marfan syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.
Center for Medical Genetics Ghent,University of Ghent RCV000029757 SCV000787174 uncertain significance Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.