ClinVar Miner

Submissions for variant NC_012920.1(MT-ND5):m.14000T>A

dbSNP: rs28359185
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
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224850 SCV000281478 likely benign not provided 2015-08-12 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000855026 SCV000998073 benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.14000T>A (YP_003024036.1:p.Leu555Gln) variant in MTND5 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BA1

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.