ClinVar Miner

Submissions for variant NM_014874.4(MFN2):c.1815C>T (p.Thr605=)

gnomAD frequency: 0.00001  dbSNP: rs751029047
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
Molecular Genetics Laboratory, London Health Sciences Centre RCV001172699 SCV001335765 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV001455899 SCV001659669 likely benign Charcot-Marie-Tooth disease type 2 2020-12-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975424 SCV004792564 likely benign MFN2-related condition 2019-04-29 criteria provided, single submitter 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.