ClinVar Miner

Submissions for variant NM_000356.4(TCOF1):c.2531C>T (p.Pro844Leu) (rs150515843)

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
Athena Diagnostics Inc RCV000713810 SCV000844447 benign not provided 2018-05-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000250907 SCV000862270 benign not specified 2018-07-06 criteria provided, single submitter clinical testing
Genetics Laboratories, Oxford Radcliffe Hospitals NHS Trust RCV000190974 SCV000245861 unknown significance Treacher Collins syndrome 1 no assertion criteria provided not provided Converted during submission to Uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000318129 SCV000455321 likely benign Treacher Collins Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000250907 SCV000306806 benign not specified criteria provided, single submitter 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.