ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.207+11G>A

gnomAD frequency: 0.22979  dbSNP: rs762521
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250561 SCV000310922 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000342604 SCV000394852 benign Xeroderma pigmentosum, group F 2018-01-12 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.
Genome-Nilou Lab RCV001660280 SCV001876114 benign Fanconi anemia complementation group Q 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000342604 SCV001876115 benign Xeroderma pigmentosum, group F 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001660279 SCV001876116 benign XFE progeroid syndrome 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV001711702 SCV001941099 benign not provided 2019-01-10 criteria provided, single submitter clinical testing
Invitae RCV002058182 SCV002487396 benign Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2024-02-01 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000342604 SCV004017480 benign Xeroderma pigmentosum, group F 2023-07-07 criteria provided, single submitter clinical testing

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