ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.1244G>A (p.Arg415Gln)

gnomAD frequency: 0.05364  dbSNP: rs1800067
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000120828 SCV000310920 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000283278 SCV000394868 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV001521901 SCV001731320 benign Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001668273 SCV001889184 benign not provided 2019-02-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24802942, 27153395, 24651674)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000120828 SCV002050966 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000283278 SCV004017482 benign Xeroderma pigmentosum, group F 2023-07-07 criteria provided, single submitter clinical testing
ITMI RCV000120828 SCV000084993 not provided not specified 2013-09-19 no assertion provided reference population

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