Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001484302 | SCV001688719 | likely benign | Retinoblastoma | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002439158 | SCV002747213 | 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: 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. |