Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001413898 | SCV001616020 | likely benign | Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma | 2023-11-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002350799 | SCV002651561 | likely benign | Hereditary cancer-predisposing syndrome | 2022-08-09 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |