ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.6486A>G (p.Ile2162Met)

gnomAD frequency: 0.00017  dbSNP: rs370994522
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
Eurofins Ntd Llc (ga) RCV000593597 SCV000702429 uncertain significance not provided 2016-10-21 criteria provided, single submitter clinical testing
GeneDx RCV000593597 SCV001994096 uncertain significance not provided 2019-07-08 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001860161 SCV002311488 benign Nemaline myopathy 2 2024-02-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000593597 SCV005187951 uncertain significance not provided criteria provided, single submitter not provided

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.