Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000123116 | SCV000166418 | likely benign | Renal cell carcinoma | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000572858 | SCV000673703 | benign | Hereditary cancer-predisposing syndrome | 2022-07-12 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Gene |
RCV003228906 | SCV003926154 | uncertain significance | not provided | 2023-05-19 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Center for Genomic Medicine, |
RCV003320567 | SCV004025172 | uncertain significance | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing |