Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001014520 | SCV001175237 | likely benign | Hereditary cancer-predisposing syndrome | 2019-08-15 | 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001800924 | SCV002047084 | likely benign | not specified | 2021-05-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002068887 | SCV002435651 | likely benign | DICER1-related tumor predisposition | 2022-10-01 | criteria provided, single submitter | clinical testing |