ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.2710C>T (p.Leu904Phe)

gnomAD frequency: 0.00006  dbSNP: rs61735804
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
Genetic Services Laboratory, University of Chicago RCV000147101 SCV000194461 uncertain significance Microcephalic osteodysplastic primordial dwarfism type II 2013-02-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000147101 SCV002782577 uncertain significance Microcephalic osteodysplastic primordial dwarfism type II 2021-09-01 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.