ClinVar Miner

Submissions for variant NM_015338.6(ASXL1):c.3910C>G (p.Leu1304Val)

dbSNP: rs747267907
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
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514197 SCV000610517 uncertain significance not provided 2017-07-17 criteria provided, single submitter clinical testing
GeneDx RCV000514197 SCV001767242 likely benign not provided 2021-04-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000514197 SCV002425272 benign not provided 2024-01-25 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.