ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.19406G>A (p.Arg6469Gln)

gnomAD frequency: 0.00010  dbSNP: rs556624010
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 RCV000493903 SCV000582252 uncertain significance not provided 2020-06-23 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001275961 SCV003258075 benign Nemaline myopathy 2 2024-01-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275961 SCV001461659 uncertain significance Nemaline myopathy 2 2019-11-11 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.