ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.1181C>T (p.Thr394Met)

gnomAD frequency: 0.00006  dbSNP: rs747694886
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002233675 SCV000828339 likely benign not provided 2023-08-31 criteria provided, single submitter clinical testing
Pathology Department, Puerta del Mar University Hospital RCV002227942 SCV002507272 uncertain significance Classic Hodgkin lymphoma 2021-10-01 criteria provided, single submitter research

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.