ClinVar Miner

Submissions for variant NM_005592.4(MUSK):c.629-5559A>C

gnomAD frequency: 0.05862  dbSNP: rs12348614
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 RCV001677626 SCV001895486 benign not provided 2018-07-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004542075 SCV004791752 benign MUSK-related disorder 2019-07-03 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.