ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.2431C>T (p.Arg811Cys)

gnomAD frequency: 0.00002  dbSNP: rs538561788
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000394398 SCV000344489 uncertain significance not provided 2016-08-04 criteria provided, single submitter clinical testing
Invitae RCV000645434 SCV000767179 likely benign Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2024-01-04 criteria provided, single submitter clinical testing
GeneDx RCV000394398 SCV001758404 uncertain significance not provided 2022-06-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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.