ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.835A>T (p.Ser279Cys) (rs121913114)

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
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000730955 SCV000858723 pathogenic not provided 2017-12-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV000017766 SCV001524467 pathogenic Achondroplasia 2020-06-03 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
OMIM RCV000017766 SCV000038044 pathogenic Achondroplasia 2008-03-01 no assertion criteria provided literature only
OMIM RCV000017767 SCV000038045 pathogenic Hypochondroplasia 2008-03-01 no assertion criteria provided literature only

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.