ClinVar Miner

Submissions for variant NM_023110.2(FGFR1):c.899T>C (p.Ile300Thr) (rs121909633)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514891 SCV000610054 uncertain significance not provided 2017-06-26 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000766015 SCV000897452 uncertain significance Kallmann syndrome 2; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis 2018-10-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000502492 SCV000594770 uncertain significance not specified 2016-03-15 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000502492 SCV000930355 uncertain significance not specified 2019-04-27 criteria provided, single submitter clinical testing
OMIM RCV000017681 SCV000037958 pathogenic Trigonocephaly 1 2005-05-01 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.