ClinVar Miner

Submissions for variant NM_012470.4(TNPO3):c.275C>T (p.Thr92Ile)

gnomAD frequency: 0.00037  dbSNP: rs61756250
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725208 SCV000335004 uncertain significance not provided 2015-09-08 criteria provided, single submitter clinical testing
GeneDx RCV000725208 SCV000518390 likely benign not provided 2019-09-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30564623, 31135626)
Labcorp Genetics (formerly Invitae), Labcorp RCV001083910 SCV000762133 likely benign Autosomal dominant limb-girdle muscular dystrophy type 1F 2025-01-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000725208 SCV005074496 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing TNPO3: PP2, BS1
PreventionGenetics, part of Exact Sciences RCV003930075 SCV004745784 likely benign TNPO3-related disorder 2019-11-01 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.