ClinVar Miner

Submissions for variant NM_000400.4(ERCC2):c.1518C>A (p.Ser506=)

gnomAD frequency: 0.00015  dbSNP: rs544159896
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
Sema4, Sema4 RCV002257199 SCV002531558 likely benign Xeroderma pigmentosum 2021-04-01 criteria provided, single submitter curation
Ambry Genetics RCV002391384 SCV002708130 likely benign Inborn genetic diseases 2019-06-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV003094219 SCV003506788 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing

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.