Submissions for variant NM_005228.5(EGFR):c.1562G>A (p.Arg521Lys)

gnomAD frequency: 0.22212  dbSNP: rs2227983

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000120690	SCV000310912	benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001520858	SCV001730069	benign	EGFR-related lung cancer	2025-02-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001657756	SCV001875963	benign	Inflammatory skin and bowel disease, neonatal, 2	2021-07-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001723686	SCV001950491	benign	not provided	2019-02-11	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 18664296, 21292812, 19265688, 17575224, 19636371, 18726117, 24728327, 7937865, 27153395, 23594562)
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003315747	SCV004017417	benign	Lung cancer	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001723686	SCV005268295	benign	not provided		criteria provided, single submitter	not provided
Ambry Genetics	RCV004948189	SCV005579546	benign	Hereditary cancer-predisposing syndrome	2024-10-18	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
ITMI	RCV000120690	SCV000084851	not provided	not specified	2013-09-19	no assertion provided	reference population
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000120690	SCV001739944	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000120690	SCV001928381	benign	not specified		no assertion criteria provided	clinical testing
Department of Surgery, Campus Charité Mitte | Campus Virchow-klinikum, Charite-Universitaetsmedizin Berlin	RCV003311680	SCV004011739	other	Cholangiocarcinoma	2022-12-10	no assertion criteria provided	research	No association with disease-free or overall survival after resection of intrahepatic Cholangiocarcinoma