Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV005225207 | SCV005870431 | uncertain significance | not provided | 2024-08-19 | criteria provided, single submitter | clinical testing | In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
| Sema4, |
RCV001022583 | SCV002527673 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-12-01 | criteria provided, single submitter | curation | |
| Labcorp Genetics |
RCV001413492 | SCV001615609 | likely benign | Multiple endocrine neoplasia type 4 | 2025-01-23 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV001022583 | SCV001184337 | likely benign | Hereditary cancer-predisposing syndrome | 2022-11-21 | 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. |