Submissions for variant NM_005228.5(EGFR):c.2329C>T (p.Leu777=)

gnomAD frequency: 0.00001  dbSNP: rs397517117

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038420	SCV000062092	likely benign	not specified	2010-06-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004948145	SCV005579712	likely benign	Hereditary cancer-predisposing syndrome	2024-11-20	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV005055543	SCV005719965	likely benign	EGFR-related lung cancer	2024-09-10	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV005246606	SCV005899624	benign	Lung cancer	2024-10-16	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.