ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.3592C>T (p.Leu1198=)

gnomAD frequency: 0.00165  dbSNP: rs142188270
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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 RCV000880827 SCV001023949 benign EGFR-related lung cancer 2025-02-01 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258025 SCV002537701 benign Hereditary cancer-predisposing syndrome 2020-10-09 criteria provided, single submitter curation
Breakthrough Genomics, Breakthrough Genomics RCV004712927 SCV005273270 benign not provided criteria provided, single submitter not provided
Ambry Genetics RCV002258025 SCV005579577 likely benign Hereditary cancer-predisposing syndrome 2024-08-09 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.

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