ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.706T>C (p.Cys236Arg)

gnomAD frequency: 0.00001  dbSNP: rs397509403
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001568088 SCV001791896 likely pathogenic not provided 2021-06-16 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32111838, 27535533, 30658521, 30165384, 23623389)
OMIM RCV000049248 SCV000077501 pathogenic Xeroderma pigmentosum, type F/Cockayne syndrome 2013-05-02 no assertion criteria provided literature only

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.