ClinVar Miner

Submissions for variant NM_004924.6(ACTN4):c.1551+49C>T

gnomAD frequency: 0.05547  dbSNP: rs62120068
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 RCV001707478 SCV001936518 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253971 SCV002524551 benign Focal segmental glomerulosclerosis 1 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001707478 SCV005310926 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.