ClinVar Miner

Submissions for variant NM_014822.4(SEC24D):c.673+8G>A

gnomAD frequency: 0.89370  dbSNP: rs6843524
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 RCV001641316 SCV001859598 benign not provided 2018-08-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807460 SCV002054730 benign Cole-Carpenter syndrome 2 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001641316 SCV002334991 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001641316 SCV005300408 benign not provided criteria provided, single submitter not provided

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.