ClinVar Miner

Submissions for variant NM_001386393.1(PANK2):c.132C>T (p.Asp44=)

gnomAD frequency: 0.00006  dbSNP: rs781106176
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001519497 SCV001728378 benign Pigmentary pallidal degeneration 2023-11-27 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676173 SCV000801925 likely benign not provided 2017-12-28 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.