ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.1851C>T (p.Cys617=)

gnomAD frequency: 0.00010  dbSNP: rs143422127
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001490854 SCV001695427 likely benign EGFR-related lung cancer 2024-01-28 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258286 SCV002537328 likely benign Hereditary cancer-predisposing syndrome 2020-11-28 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV003426155 SCV004162142 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing EGFR: BP4, BP7

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