ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.196G>T (p.Gly66Ter) (rs587779355)

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
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000115045 SCV000108550 pathogenic Microcephalic osteodysplastic primordial dwarfism type II no assertion criteria provided research
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000171352 SCV000221549 likely pathogenic not provided no assertion criteria provided research

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.