Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002177770 | SCV002341751 | likely benign | Retinoblastoma | 2021-04-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002441270 | SCV002752139 | likely benign | Hereditary cancer-predisposing syndrome | 2021-12-25 | 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. |