ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.7913+40C>T

gnomAD frequency: 0.18569  dbSNP: rs1023161
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
GeneDx RCV001682855 SCV001896802 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000147215 SCV000194582 likely benign not specified no assertion criteria provided 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.