ClinVar Miner

Submissions for variant NM_014822.4(SEC24D):c.913+49C>T

gnomAD frequency: 0.23236  dbSNP: rs2303513
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
GeneDx RCV001687145 SCV001901468 benign not provided 2018-08-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807508 SCV002054728 benign Cole-Carpenter syndrome 2 2021-07-15 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.