Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000867476 | SCV001008706 | likely benign | Renal cell carcinoma | 2023-12-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002453979 | SCV002613081 | likely benign | Hereditary cancer-predisposing syndrome | 2015-03-06 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Center for Genomic Medicine, |
RCV003321756 | SCV004027213 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003895276 | SCV004713249 | likely benign | MET-related disorder | 2023-09-12 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |