ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.921C>T (p.Cys307=)

gnomAD frequency: 0.00302  dbSNP: rs17289893
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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 RCV000895383 SCV001039420 benign EGFR-related lung cancer 2025-02-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712933 SCV005268228 benign not provided criteria provided, single submitter not provided
Ambry Genetics RCV004950032 SCV005579579 likely benign Hereditary cancer-predisposing syndrome 2024-08-09 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.

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