ClinVar Miner

Submissions for variant NM_004715.4(CTDP1):c.1461G>A (p.Pro487=) (rs2126082)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000401492 SCV000340433 benign not specified 2016-03-18 criteria provided, single submitter clinical testing
GeneDx RCV001651316 SCV001862715 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000602719 SCV000733807 benign Congenital cataracts-facial dysmorphism-neuropathy syndrome no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000401492 SCV001923616 benign not specified no assertion criteria provided clinical testing

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.