Submissions for variant NM_005236.3(ERCC4):c.2655G>A (p.Thr885=)

gnomAD frequency: 0.01026  dbSNP: rs16963255

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000242822	SCV000310926	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000384807	SCV000394887	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	RCV000464766	SCV000559234	benign	Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001689851	SCV001908121	benign	not provided	2019-03-26	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002500902	SCV002808319	likely benign	Xeroderma pigmentosum, group F; XFE progeroid syndrome; Fanconi anemia complementation group Q	2022-04-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001689851	SCV002822276	benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	ERCC4: BP4, BP7, BS1, BS2
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000384807	SCV004017487	benign	Xeroderma pigmentosum, group F	2023-07-07	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000242822	SCV001798139	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000242822	SCV001806847	benign	not specified		no assertion criteria provided	clinical testing