Submissions for variant NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly)

gnomAD frequency: 0.01216  dbSNP: rs1800124

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Vantari Genetics	RCV000210773	SCV000267036	likely benign	Hereditary cancer-predisposing syndrome	2015-12-11	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224428	SCV000280899	likely benign	not provided	2015-08-17	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000228558	SCV000288843	benign	Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000116989	SCV000310925	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001117767	SCV001275987	benign	Xeroderma pigmentosum, group F	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
GeneDx	RCV000224428	SCV001901105	benign	not provided	2019-04-01	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28051113, 17419091, 24728327, 20061190, 22374244, 15886521, 10479728, 24465539, 18767034, 28690523, 19626602, 24704021, 24004570)
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001117767	SCV004017486	benign	Xeroderma pigmentosum, group F	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000224428	SCV005217485	likely benign	not provided		criteria provided, single submitter	not provided
ITMI	RCV000116989	SCV000084972	not provided	not specified	2013-09-19	no assertion provided	reference population
Genetic Services Laboratory, University of Chicago	RCV000116989	SCV000151110	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.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000116989	SCV002035124	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000224428	SCV002036127	likely benign	not provided		no assertion criteria provided	clinical testing