Submissions for variant NM_005236.3(ERCC4):c.2617A>G (p.Ile873Val)

gnomAD frequency: 0.00625  dbSNP: rs2020957

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001086582	SCV000288842	benign	Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q	2024-01-13	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000120807	SCV000594577	benign	not specified	2018-12-14	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514744	SCV000610354	likely benign	not provided	2017-06-19	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001117766	SCV001275986	likely benign	Xeroderma pigmentosum, group F	2017-04-28	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Sema4, Sema4	RCV002258799	SCV002537951	benign	Xeroderma pigmentosum	2021-02-07	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001117766	SCV004017497	benign	Xeroderma pigmentosum, group F	2023-07-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000514744	SCV004141174	benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	ERCC4: BP4, BS1, BS2
ITMI	RCV000120807	SCV000084971	not provided	not specified	2013-09-19	no assertion provided	reference population