ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.2591A>T (p.Asn864Ile)

dbSNP: rs121918050
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 RCV000795150 SCV000934593 uncertain significance Progressive sclerosing poliodystrophy 2021-08-28 criteria provided, single submitter clinical testing
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV000795150 SCV000998970 likely pathogenic Progressive sclerosing poliodystrophy 2019-07-17 criteria provided, single submitter 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.