ClinVar Miner

Submissions for variant NM_205836.3(FBXO38):c.2736C>T (p.Ile912=)

gnomAD frequency: 0.00012  dbSNP: rs142105545
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002243086 SCV001619683 likely benign Distal hereditary motor neuropathy type 2 2024-06-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003946094 SCV004775223 likely benign FBXO38-related disorder 2019-07-10 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.