Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003596977 | SCV004312593 | likely benign | Renal cell carcinoma | 2023-08-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004369386 | SCV005037889 | likely benign | Hereditary cancer-predisposing syndrome | 2023-11-03 | 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. |