ClinVar Miner

Submissions for variant NM_001127198.5(TMC6):c.1276G>A (p.Gly426Arg)

gnomAD frequency: 0.00394  dbSNP: rs61744921
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000532937 SCV000626070 benign Epidermodysplasia verruciformis 2025-01-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001702670 SCV005254460 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702670 SCV001931693 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727740 SCV001968798 benign not specified no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003925578 SCV004751509 benign TMC6-related disorder 2024-01-19 no assertion criteria provided clinical testing This variant is classified as 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.