Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001425277 | SCV001627903 | likely benign | Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma | 2020-10-15 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002259055 | SCV002527067 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-01-06 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002259055 | SCV002743328 | likely benign | Hereditary cancer-predisposing syndrome | 2022-09-26 | 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. |