ClinVar Miner

Submissions for variant NM_001256071.3(RNF213):c.5947C>T (p.Arg1983Trp)

gnomAD frequency: 0.00212  dbSNP: rs116608867
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000904523 SCV001049045 benign not provided 2022-12-06 criteria provided, single submitter clinical testing
GeneDx RCV000904523 SCV002005269 uncertain significance not provided 2024-01-02 criteria provided, single submitter clinical testing Has not been previously published in peer-reviewed literature as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
PreventionGenetics, part of Exact Sciences RCV003912918 SCV004733361 likely benign RNF213-related disorder 2019-10-16 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.