ClinVar Miner

Submissions for variant NM_138701.4(MPLKIP):c.229del (p.Arg77fs)

dbSNP: rs2150561563
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001806299 SCV002053792 pathogenic Trichothiodystrophy 4, nonphotosensitive criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001806299 SCV003819619 pathogenic Trichothiodystrophy 4, nonphotosensitive 2023-02-17 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.