ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.249G>A (p.Gln83=)

gnomAD frequency: 0.00003  dbSNP: rs939737982
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001432060 SCV001634824 likely benign EGFR-related lung cancer 2025-01-05 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258252 SCV002537354 likely benign Hereditary cancer-predisposing syndrome 2022-02-08 criteria provided, single submitter curation

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