ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.3581C>T (p.Ala1194Val) (rs138254119)

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
Fulgent Genetics,Fulgent Genetics RCV000147116 SCV000896812 uncertain significance Microcephalic osteodysplastic primordial dwarfism type 2 2018-10-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000147116 SCV000194476 uncertain significance Microcephalic osteodysplastic primordial dwarfism type 2 2013-10-29 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325867 SCV000436984 uncertain significance Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 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.