ClinVar Miner

Submissions for variant NM_004208.4(AIFM1):c.1574-20G>T

gnomAD frequency: 0.00002  dbSNP: rs749868550
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
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173132 SCV001336208 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003769850 SCV004607132 likely benign Charcot-Marie-Tooth Neuropathy X; Combined oxidative phosphorylation deficiency 2023-05-22 criteria provided, single submitter clinical testing

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.