Submissions for variant NM_005228.5(EGFR):c.2355C>T (p.Thr785=)

gnomAD frequency: 0.00033  dbSNP: rs148188503

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001490857	SCV001695430	likely benign	EGFR-related lung cancer	2024-01-31	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002257378	SCV002537347	likely benign	Hereditary cancer-predisposing syndrome	2020-10-09	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003315566	SCV004017424	likely benign	Lung cancer	2023-07-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003421950	SCV004162148	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	EGFR: BP4, BP7
Ambry Genetics	RCV002257378	SCV005023535	likely benign	Hereditary cancer-predisposing syndrome	2023-12-15	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.
Breakthrough Genomics, Breakthrough Genomics	RCV003421950	SCV005227381	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038426	SCV000062098	likely benign	not specified	2008-03-01	no assertion criteria provided	clinical testing