ClinVar Miner

Submissions for variant NM_001386393.1(PANK2):c.1083-14_1083-9dup

gnomAD frequency: 0.15963  dbSNP: rs10679953
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082678 SCV000114720 benign not specified 2013-10-02 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000302058 SCV000433818 benign Pigmentary pallidal degeneration 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000302058 SCV001732109 benign Pigmentary pallidal degeneration 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000675594 SCV001899527 benign not provided 2018-12-09 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675594 SCV000801286 benign not provided 2017-05-18 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.