ClinVar Miner

Submissions for variant NC_000007.13:g.(?_116395399)_(116395579_?)dup

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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 RCV000796782 SCV000936310 uncertain significance Papillary renal cell carcinoma type 1 2018-11-02 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon 6 of the MET gene. While the exact position of this variant cannot be determined from this data, sub-genic copy number gains are generally in tandem (PMID: 25640679) and may result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with MET-related disease. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001372182 SCV001568791 uncertain significance Renal cell carcinoma 2018-10-14 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MET cause disease. This variant has not been reported in the literature in individuals with MET-related disease. This variant results in a copy number gain of the genomic region encompassing exon 6 of the MET gene. While the exact position of this variant cannot be determined from this data, sub-genic copy number gains are generally in tandem (PMID: 25640679) and may result in an absent or disrupted protein product.

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