ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.5114+7A>G

gnomAD frequency: 0.00002  dbSNP: rs1553774672
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000648758 SCV000770579 likely benign Aortic aneurysm, familial thoracic 7 2024-07-01 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770610 SCV000902060 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-04-20 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.