ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.354C>T (p.Ala118=)

gnomAD frequency: 0.00029  dbSNP: rs147726446
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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 RCV000860947 SCV001001135 likely benign EGFR-related lung cancer 2024-01-31 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258000 SCV002537699 likely benign Hereditary cancer-predisposing syndrome 2021-06-23 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003938208 SCV004765111 likely benign EGFR-related disorder 2022-06-21 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Breakthrough Genomics, Breakthrough Genomics RCV004707418 SCV005227362 likely benign not provided criteria provided, single submitter not provided

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