ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.1881G>C (p.Arg627Ser)

dbSNP: rs1563436265
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
Dobyns Lab, Seattle Children's Research Institute RCV000779636 SCV000916313 pathogenic Hartsfield-Bixler-Demyer syndrome; Cerebellar vermis hypoplasia 2019-02-18 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001257986 SCV001434799 likely pathogenic Congenital cerebellar hypoplasia no assertion criteria provided 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.