ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.2626-5C>T

gnomAD frequency: 0.00007  dbSNP: rs563080257
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001416355 SCV001618535 likely benign EGFR-related lung cancer 2024-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004951708 SCV005579650 benign Hereditary cancer-predisposing syndrome 2024-10-28 criteria provided, single submitter clinical testing This alteration is classified as 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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