Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001433707 | SCV001636501 | likely benign | not provided | 2023-09-06 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002255666 | SCV002529026 | likely benign | Hereditary cancer-predisposing syndrome | 2022-01-04 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002255666 | SCV002677698 | likely benign | Hereditary cancer-predisposing syndrome | 2020-08-24 | 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. |