ClinVar Miner

Submissions for variant NM_000142.4(FGFR3):c.1519G>A (p.Val507Met) (rs1560437651)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics RCV000782367 SCV000920387 uncertain significance Thanatophoric dysplasia type 1 2019-01-01 criteria provided, single submitter research The same individual also harbours another variant chr3:9984763_9984764delTG in CRELD1 gene

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.