ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.2156G>C (p.Gly719Ala) (rs121913428)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038381 SCV000062053 pathogenic Non-small cell lung cancer 2013-01-04 criteria provided, single submitter clinical testing The Gly719Ala variant has been reported in isolation in individuals with increased sensitivity to gefitinib treatment (Han 2005).
Database of Curated Mutations (DoCM) RCV000038381 SCV000504234 pathogenic Non-small cell lung cancer 2015-07-14 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000426037 SCV000504235 likely pathogenic Glioblastoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000436293 SCV000504236 likely pathogenic Lung adenocarcinoma 2016-05-31 no assertion criteria provided literature only

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