ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.351T>C (p.Asn117=)

gnomAD frequency: 0.00009  dbSNP: rs117710834
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727972 SCV000855488 uncertain significance not provided 2017-07-05 criteria provided, single submitter clinical testing
Invitae RCV000727972 SCV001086876 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000727972 SCV004699944 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing TRMU: BP4, BP7
Natera, Inc. RCV001277298 SCV001464239 likely benign Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 2019-11-11 no assertion criteria provided 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.