ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.21332C>G (p.Ala7111Gly)

dbSNP: rs1279646895
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001257213 SCV001433741 likely benign Nemaline myopathy 2 2023-12-05 criteria provided, single submitter clinical testing
GeneDx RCV001788434 SCV002030929 uncertain significance not provided 2022-06-30 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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
Revvity Omics, Revvity RCV001788434 SCV003812191 uncertain significance not provided 2021-09-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001257213 SCV002084066 uncertain significance Nemaline myopathy 2 2020-02-04 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.