ClinVar Miner

Submissions for variant NM_000123.4(ERCC5):c.1115_1118del (p.Arg372fs)

dbSNP: rs786200919
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002276555 SCV002567227 pathogenic not provided 2022-02-24 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 11841555)
Fulgent Genetics, Fulgent Genetics RCV005003376 SCV005632780 likely pathogenic Xeroderma pigmentosum, group G; Cerebrooculofacioskeletal syndrome 3 2024-03-18 criteria provided, single submitter clinical testing
OMIM RCV000018042 SCV000038321 pathogenic Xeroderma pigmentosum, group G 2002-02-01 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.