ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.4374GAA[2] (p.Lys1461del) (rs151344581)

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
Invitae RCV000190959 SCV000776786 benign Treacher Collins syndrome 1 2020-10-30 criteria provided, single submitter clinical testing
GeneDx RCV001711488 SCV001944052 benign not provided 2019-05-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20003452)
Genetics Laboratories, Oxford Radcliffe Hospitals NHS Trust RCV000190959 SCV000245846 unknown significance Treacher Collins syndrome 1 no assertion criteria provided not provided Converted during submission to Uncertain significance.

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.