ClinVar Miner

Submissions for variant NM_206937.2(LIG4):c.686A>G (p.His229Arg)

gnomAD frequency: 0.00196  dbSNP: rs142957638
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
Genetic Services Laboratory, University of Chicago RCV000195272 SCV000247840 uncertain significance not specified 2015-05-04 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000732275 SCV000860206 uncertain significance not provided 2018-03-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001082219 SCV001003819 likely benign DNA ligase IV deficiency 2025-01-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541244 SCV004773642 likely benign LIG4-related disorder 2020-03-09 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.