ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.20972G>A (p.Arg6991His)

gnomAD frequency: 0.00003  dbSNP: rs781020561
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000792196 SCV000931476 benign Nemaline myopathy 2 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001552665 SCV001773396 uncertain significance not provided 2020-08-26 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
CeGaT Center for Human Genetics Tuebingen RCV001552665 SCV004154118 uncertain significance not provided 2022-03-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001552665 SCV004235562 uncertain significance not provided 2023-03-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000792196 SCV002084077 uncertain significance Nemaline myopathy 2 2020-02-21 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.