Submissions for variant NM_005236.3(ERCC4):c.252C>T (p.Leu84=)

gnomAD frequency: 0.00941  dbSNP: rs3136056

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000231873	SCV000288841	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	RCV000247899	SCV000310924	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000401388	SCV000394853	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.
GeneDx	RCV001618353	SCV001843617	benign	not provided	2019-03-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001618353	SCV002063492	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	ERCC4: BP4, BP7, BS2
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000401388	SCV004017488	benign	Xeroderma pigmentosum, group F	2023-07-07	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000247899	SCV001807690	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000247899	SCV001967040	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000247899	SCV002036037	benign	not specified		no assertion criteria provided	clinical testing