Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000233322 | SCV000283950 | likely benign | Gastrointestinal stromal tumor | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002444881 | SCV002680275 | likely benign | Hereditary cancer-predisposing syndrome | 2020-03-30 | 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. |
Fulgent Genetics, |
RCV002503889 | SCV002803481 | likely benign | Gastrointestinal stromal tumor; Piebaldism; Acute myeloid leukemia; Cutaneous mastocytosis; Germ cell tumor of testis | 2021-11-24 | criteria provided, single submitter | clinical testing | |
Ce |
RCV004546462 | SCV005042039 | likely benign | not provided | 2024-04-01 | criteria provided, single submitter | clinical testing | KIT: BP4, BP7 |