ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.17304G>A (p.Leu5768=)

gnomAD frequency: 0.00526  dbSNP: rs35273905
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721288 SCV000528062 benign not provided 2019-11-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000553740 SCV000640594 benign Nemaline myopathy 2 2024-01-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003226294 SCV003922822 likely benign not specified 2023-03-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001721288 SCV005245954 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000553740 SCV002076990 benign Nemaline myopathy 2 2019-12-05 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004551469 SCV004742824 benign NEB-related disorder 2019-03-29 no assertion criteria provided 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.