ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.1632T>C (p.Gly544=)

gnomAD frequency: 0.00901  dbSNP: rs17290103
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000963636 SCV001110804 benign EGFR-related lung cancer 2024-02-01 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257420 SCV002537321 benign Hereditary cancer-predisposing syndrome 2021-04-26 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV002512060 SCV002821813 benign not provided 2023-02-01 criteria provided, single submitter clinical testing EGFR: BP4, BP7, BS1, BS2
ITMI RCV000120693 SCV000084854 not provided not specified 2013-09-19 no assertion provided reference population
Genetic Services Laboratory, University of Chicago RCV000120693 SCV003839458 benign not specified 2022-05-12 no assertion criteria provided clinical testing

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