ClinVar Miner

Submissions for variant NM_001195.5(BFSP1):c.1125G>T (p.Glu375Asp)

gnomAD frequency: 0.01147  dbSNP: rs139124891
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 RCV000548722 SCV000653854 benign Cataract 33 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001591273 SCV001815416 likely benign not provided 2020-07-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001591273 SCV005207397 likely benign not provided criteria provided, single submitter not provided

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.