ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.1890G>A (p.Gly630=)

gnomAD frequency: 0.00036  dbSNP: rs372179902
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
GeneDx RCV001665654 SCV001881053 benign not provided 2020-05-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821946 SCV002067689 likely benign not specified 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260278 SCV002539560 benign Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2021-12-05 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.