Submissions for variant NM_000123.4(ERCC5):c.3356C>T (p.Ala1119Val)

gnomAD frequency: 0.00116  dbSNP: rs2227871

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000861420	SCV001001724	benign	not provided	2024-11-11	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001112637	SCV001270319	likely benign	Xeroderma pigmentosum, group G	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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV000861420	SCV002010638	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002256057	SCV002534874	likely benign	Hereditary cancer-predisposing syndrome	2021-07-01	criteria provided, single submitter	curation
ITMI	RCV000120842	SCV000085007	not provided	not specified	2013-09-19	no assertion provided	reference population
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000861420	SCV001926929	likely benign	not provided		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000861420	SCV001962811	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003925184	SCV004742722	likely benign	ERCC5-related disorder	2023-12-26	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).