ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.758A>G (p.Lys253Arg)

gnomAD frequency: 0.00003  dbSNP: rs374084791
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001205849 SCV001377127 benign EGFR-related lung cancer 2024-01-27 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002259089 SCV002537713 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-07 criteria provided, single submitter curation
Breakthrough Genomics, Breakthrough Genomics RCV004695163 SCV005188518 uncertain significance not provided criteria provided, single submitter not provided

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