Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001507223 | SCV000166419 | benign | Renal cell carcinoma | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000723812 | SCV000225560 | uncertain significance | not provided | 2014-10-28 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000123117 | SCV000466453 | likely benign | Papillary renal cell carcinoma type 1 | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000174283 | SCV000569535 | likely benign | not specified | 2017-11-02 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Genetic Services Laboratory, |
RCV000174283 | SCV002069846 | likely benign | not specified | 2021-08-19 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002257476 | SCV002532129 | benign | Hereditary cancer-predisposing syndrome | 2020-08-06 | criteria provided, single submitter | curation | |
Center for Genomic Medicine, |
RCV000174283 | SCV002550806 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000174283 | SCV002766140 | benign | not specified | 2022-11-03 | criteria provided, single submitter | clinical testing | Variant summary: MET c.2638-7delC alters a conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.0016 in 239374 control chromosomes. The observed variant frequency is approximately 1050 fold of the estimated maximal expected allele frequency for a pathogenic variant in MET causing Papillary Renal Cell Carcinoma phenotype (1.5e-06), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.2638-7delC in individuals affected with Papillary Renal Cell Carcinoma and no experimental evidence demonstrating its impact on protein function have been reported. Six ClinVar submitters (evaluation after 2014) cite the variant as benign (n=2) and likely benign (n=4). Based on the evidence outlined above, the variant was classified as benign. |