ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.-31+474G>A

gnomAD frequency: 0.02206  dbSNP: rs112082531
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
GeneDx RCV001539686 SCV001757486 likely benign not provided 2019-09-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001539686 SCV005224219 likely benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001539686 SCV001799959 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001580121 SCV001809759 benign not specified no assertion criteria provided 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.