ClinVar Miner

Submissions for variant NC_000007.13:g.(?_55266390)_(55266576_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004583593 SCV005065977 uncertain significance EGFR-related lung cancer 2022-12-16 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 23 of the EGFR gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with EGFR-related conditions.

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