ClinVar Miner

Submissions for variant NM_003660.4(PPFIA3):c.1243C>T (p.Arg415Trp)

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 RCV003128212 SCV003804192 pathogenic not provided criteria provided, single submitter clinical testing
Undiagnosed Diseases Network, NIH RCV003492820 SCV004242193 uncertain significance PPFIA3-related disorder 2017-11-30 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.