ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.4257C>T (p.Leu1419=)

gnomAD frequency: 0.00010  dbSNP: rs141157994
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002179521 SCV002338944 benign not provided 2023-12-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002179521 SCV005075157 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing FN1: BP4, BP7, BS1
PreventionGenetics, part of Exact Sciences RCV003923463 SCV004746214 likely benign FN1-related disorder 2019-06-11 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.