Submissions for variant NM_005236.3(ERCC4):c.1488A>T (p.Gln496His)

gnomAD frequency: 0.00201  dbSNP: rs146601373

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000459235	SCV000559236	likely benign	Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q	2024-01-04	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001117661	SCV001275870	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genetic Services Laboratory, University of Chicago	RCV000120823	SCV002071297	likely benign	not specified	2020-12-17	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002258800	SCV002537727	uncertain significance	Xeroderma pigmentosum	2021-11-30	criteria provided, single submitter	curation
Ambry Genetics	RCV002515862	SCV003594605	likely benign	Inborn genetic diseases	2021-08-23	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001117661	SCV004017490	likely benign	Xeroderma pigmentosum, group F	2023-07-07	criteria provided, single submitter	clinical testing
ITMI	RCV000120823	SCV000084988	not provided	not specified	2013-09-19	no assertion provided	reference population
University of Washington Center for Mendelian Genomics, University of Washington	RCV001034544	SCV001197909	uncertain significance	Hutchinson-Gilford syndrome		no assertion criteria provided	research