ClinVar Miner

Submissions for variant NM_156039.3(CSF3R):c.447G>C (p.Glu149Asp) (rs139332126)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000658506 SCV000780274 likely benign not provided 2018-03-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000504453 SCV000594233 likely benign not specified 2016-11-14 criteria provided, single submitter clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV000504453 SCV000864365 likely benign not specified 2017-08-15 criteria provided, single submitter clinical testing BS1, BP4; This alteration has an allele frequency that is greater than expected for the associated disease, and is predicted to be tolerated by multiple functional prediction tools.
Invitae RCV000560020 SCV000656836 benign Neutropenia, severe congenital, 7, autosomal recessive 2017-12-26 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.