ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.3210C>T (p.Ser1070=)

gnomAD frequency: 0.00327  dbSNP: rs41494749
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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 RCV000861378 SCV001001678 benign EGFR-related lung cancer 2024-01-31 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258002 SCV002537688 benign Hereditary cancer-predisposing syndrome 2021-05-29 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV003457841 SCV004185442 benign not provided 2023-11-01 criteria provided, single submitter clinical testing EGFR: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV003457841 SCV005271299 benign not provided criteria provided, single submitter not provided

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