ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.2280C>T (p.Leu760=)

gnomAD frequency: 0.00002  dbSNP: rs397517103
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001501546 SCV001706360 likely benign EGFR-related lung cancer 2025-01-12 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV005246604 SCV005896754 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.
Ambry Genetics RCV005328202 SCV005998181 likely benign Hereditary cancer-predisposing syndrome 2025-01-10 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038399 SCV000062071 likely benign not specified 2006-10-28 no assertion criteria provided clinical testing

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