ClinVar Miner

Submissions for variant NC_000007.14:g.(?_55160129)_(55161641_?)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 RCV001033642 SCV001196949 uncertain significance EGFR-related lung cancer 2020-02-10 criteria provided, single submitter clinical testing 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 with EGFR-related conditions. This variant is an in-frame deletion of the genomic region encompassing exons 12-13 of the EGFR gene. It preserves the integrity of the reading frame.

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