ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.2038C>T (p.Gln680Ter)

dbSNP: rs121909636
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
Chan Lab, Boston Children's Hospital RCV000156950 SCV000206671 likely pathogenic Delayed puberty 2014-11-01 criteria provided, single submitter case-control
Reproductive Endocrine Unit, Massachusetts General Hospital RCV000030931 SCV003932506 pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia 2023-05-04 criteria provided, single submitter research The variant NM_023110.2:c.2038C>T, p.(Gln680*) het has been classified as P1c based on the variant meeting the following ACMG Criteria: PVS1,PM2PP1,PP3.
OMIM RCV000030931 SCV000037963 pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia 2006-04-18 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.