ClinVar Miner

Submissions for variant NM_007259.5(VPS45):c.1372-9C>T

gnomAD frequency: 0.00001  dbSNP: rs201173713
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 RCV001436865 SCV001639709 likely benign Congenital neutropenia-myelofibrosis-nephromegaly syndrome 2023-12-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820129 SCV002065383 likely benign not specified 2021-06-25 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.