ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.2257+10C>T

gnomAD frequency: 0.00282  dbSNP: rs202068698
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000556870 SCV000641814 benign Vici syndrome 2026-02-01 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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.