Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000628800 | SCV000749707 | uncertain significance | Papillary renal cell carcinoma type 1 | 2017-12-08 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exon 5 of the MET gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with MET-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. 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. |
| Invitae | RCV001299850 | SCV001488962 | uncertain significance | Renal cell carcinoma | 2021-08-04 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 5 of the MET gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with MET-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |