Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001279095 | SCV001603698 | likely benign | Bloom syndrome | 2021-08-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002427206 | SCV002727405 | likely benign | Hereditary cancer-predisposing syndrome | 2021-01-05 | 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. |
Natera, |
RCV001279095 | SCV001466158 | uncertain significance | Bloom syndrome | 2020-08-14 | no assertion criteria provided | clinical testing |