Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000474548 | SCV000551837 | likely benign | Retinoblastoma | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000564121 | SCV000674726 | likely benign | Hereditary cancer-predisposing syndrome | 2021-05-17 | 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. |
Genetic Diagnostic Laboratory, |
RCV000474548 | SCV000087341 | pathogenic | Retinoblastoma | 2013-09-16 | no assertion criteria provided | research | Damaging according to PolyPhen |