Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001022601 | SCV001184356 | likely benign | Hereditary cancer-predisposing syndrome | 2018-01-26 | 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. |
Invitae | RCV001413642 | SCV001615761 | likely benign | DICER1-related tumor predisposition | 2023-10-04 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV001022601 | SCV002533010 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-04-06 | criteria provided, single submitter | curation |