ClinVar Miner

Submissions for variant NC_000007.13:g.116166573-?_116436183+?dup

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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 RCV001298708 SCV001487772 uncertain significance Renal cell carcinoma 2016-04-01 criteria provided, single submitter clinical testing A gross duplication 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 duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. Gross duplications of MET have not been reported in the literature in individuals with a MET-related disease. In summary, because the exact boundaries of this variant have not been determined, and whether this duplication occurs in tandem is not known, its impact on MET protein function cannot be unequivocally established. Therefore, it has been classified as a Variant of Uncertain Significance.

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