ClinVar Miner

Submissions for variant NM_207361.6(FREM2):c.6499C>T (p.Arg2167Trp) (rs114837786)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000348468 SCV000337432 uncertain significance not provided 2015-11-25 criteria provided, single submitter clinical testing
OMIM RCV000767220 SCV000897762 pathogenic Cryptophthalmos, unilateral or bilateral, isolated 2019-12-18 no assertion criteria provided literature only
OMIM RCV000767221 SCV000897765 pathogenic FRASER SYNDROME 2 2019-12-18 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.