ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.2304C>T (p.Ser768=)

gnomAD frequency: 0.00009  dbSNP: rs778199483
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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 RCV001501516 SCV001706330 likely benign EGFR-related lung cancer 2023-12-27 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478861 SCV004221884 benign not provided 2023-04-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004037428 SCV005023108 likely benign Hereditary cancer-predisposing syndrome 2023-12-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003956109 SCV004778619 likely benign EGFR-related disorder 2023-07-10 no assertion criteria provided 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).

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