Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001696783 | SCV000535323 | likely benign | not provided | 2021-04-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000527675 | SCV000648778 | benign | Neuroblastoma, susceptibility to, 3 | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002446752 | SCV002676694 | likely benign | Hereditary cancer-predisposing syndrome | 2022-03-02 | 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. |