ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.21056G>A (p.Arg7019His)

gnomAD frequency: 0.00011  dbSNP: rs377443184
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
Invitae RCV001241259 SCV001414265 benign Nemaline myopathy 2 2024-01-08 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV002261319 SCV002541866 uncertain significance not provided 2021-07-08 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002261319 SCV003811493 uncertain significance not provided 2019-07-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001241259 SCV002084075 uncertain significance Nemaline myopathy 2 2020-01-17 no assertion criteria provided 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.