ClinVar Miner

Submissions for variant NM_002469.3(MYF6):c.269C>A (p.Ala90Asp)

gnomAD frequency: 0.00077  dbSNP: rs138296448
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
Invitae RCV000988877 SCV000651967 likely benign Autosomal dominant centronuclear myopathy 2023-11-27 criteria provided, single submitter clinical testing
Mendelics RCV000988877 SCV001138774 benign Autosomal dominant centronuclear myopathy 2019-05-28 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.