ClinVar Miner

Submissions for variant NC_000007.13:g.(?_116339139)_(116436178_?)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 RCV001372181 SCV001568790 uncertain significance Renal cell carcinoma 2021-08-24 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the MET gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with MET-related conditions. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MET cause disease. 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.

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