Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000874199 | SCV001016334 | likely benign | Bloom syndrome | 2023-11-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002332837 | SCV002628825 | likely benign | Hereditary cancer-predisposing syndrome | 2021-08-10 | 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, |
RCV000874199 | SCV001461029 | likely benign | Bloom syndrome | 2020-09-16 | no assertion criteria provided | clinical testing |