ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.5761A>T (p.Ile1921Phe)

gnomAD frequency: 0.00045  dbSNP: rs138593265
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001762880 SCV001988836 benign not provided 2021-08-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001762880 SCV002353584 likely benign not provided 2023-11-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496066 SCV002802018 likely benign Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia - Sutcliffe type 2022-02-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003913360 SCV004730243 likely benign FN1-related disorder 2023-03-27 no assertion criteria provided 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.