ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.5021G>A (p.Arg1674Lys)

gnomAD frequency: 0.00090  dbSNP: rs143333246
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
Genetic Services Laboratory, University of Chicago RCV000192867 SCV000247809 uncertain significance not specified 2015-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000875855 SCV001018331 likely benign LAMA2-related muscular dystrophy 2025-01-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003129798 SCV003815758 uncertain significance not provided 2019-07-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530131 SCV004746147 likely benign LAMA2-related disorder 2022-03-10 no assertion criteria provided clinical testing This variant is classified as likely 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.