ClinVar Miner

Submissions for variant NM_032447.5(FBN3):c.5223C>T (p.Ile1741=)

gnomAD frequency: 0.00089  dbSNP: rs138444808
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000879179 SCV001022194 benign not provided 2023-12-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000879179 SCV004146509 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing FBN3: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003920481 SCV004730750 likely benign FBN3-related disorder 2020-01-02 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.