ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.1916T>C (p.Ile639Thr)

dbSNP: rs727505370
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 RCV000156955 SCV000206676 likely pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia 2014-11-01 criteria provided, single submitter case-control
Chan Lab,Boston Children's Hospital RCV000156956 SCV000206677 likely pathogenic Delayed puberty 2014-11-01 criteria provided, single submitter case-control
Reproductive Endocrine Unit, Massachusetts General Hospital RCV003234547 SCV003932571 pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia 2023-05-04 criteria provided, single submitter research The variant has been classified as P2 based on the variant meeting the following ACMG Criteria: PS2,PM2,PP3,PP1,PP2,PP4.

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.