Submissions for variant NM_005236.3(ERCC4):c.2505T>C (p.Ser835=)

gnomAD frequency: 0.24619  dbSNP: rs1799801

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000116988	SCV000310923	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000265728	SCV000394885	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001514330	SCV001722150	benign	Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q	2025-02-04	criteria provided, single submitter	clinical testing
GeneDx	RCV001650957	SCV001864307	benign	not provided	2019-02-26	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001657727	SCV001876127	benign	Fanconi anemia complementation group Q	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000265728	SCV001876128	benign	Xeroderma pigmentosum, group F	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001657726	SCV001876129	benign	XFE progeroid syndrome	2021-07-30	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000265728	SCV004017481	benign	Xeroderma pigmentosum, group F	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001650957	SCV005290125	benign	not provided		criteria provided, single submitter	not provided
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001650957	SCV005876104	benign	not provided	2024-11-22	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000116988	SCV000151109	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.