ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.5743G>A (p.Ala1915Thr)

gnomAD frequency: 0.00032  dbSNP: rs550245456
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
Genetic Services Laboratory, University of Chicago RCV001822254 SCV002066217 benign not specified 2018-04-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002077276 SCV002410400 benign not provided 2024-11-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003913395 SCV004732405 benign PCNT-related disorder 2019-09-26 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.