ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.3271+49del

gnomAD frequency: 0.00016  dbSNP: rs17337514
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001292608 SCV001481194 uncertain significance Lung cancer 2020-08-28 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Sema4, Sema4 RCV002258180 SCV002537692 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-29 criteria provided, single submitter curation

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