ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.974-6T>C

gnomAD frequency: 0.00091  dbSNP: rs201181735
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000202807 SCV000258018 likely benign not specified 2015-02-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000202807 SCV000310929 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000353369 SCV000394864 likely benign Xeroderma pigmentosum, group F 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000964431 SCV001111637 benign Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2019-12-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000202807 SCV002071264 likely benign not specified 2019-12-31 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257501 SCV002537964 likely benign Xeroderma pigmentosum 2021-01-31 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV003417735 SCV004141168 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing ERCC4: BP4

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.