ClinVar Miner

Submissions for variant NM_024782.3(NHEJ1):c.783C>G (p.Val261=)

gnomAD frequency: 0.00011  dbSNP: rs374469478
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
GeneDx RCV000608681 SCV000719227 likely benign not specified 2017-05-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000916961 SCV001062218 likely benign Cernunnos-XLF deficiency 2023-12-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003431142 SCV004151424 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing NHEJ1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003953036 SCV004776355 likely benign NHEJ1-related disorder 2019-03-27 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.