ClinVar Miner

Submissions for variant NM_004618.5(TOP3A):c.1527C>T (p.Asp509=)

gnomAD frequency: 0.26761  dbSNP: rs2230154
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
Genome-Nilou Lab RCV001838920 SCV002098659 benign Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001838919 SCV002098660 benign Microcephaly, growth restriction, and increased sister chromatid exchange 2 2021-09-10 criteria provided, single submitter clinical testing
Invitae RCV002077324 SCV002409666 benign not provided 2024-02-01 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.