Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001025499 | SCV001187699 | likely benign | Hereditary cancer-predisposing syndrome | 2019-05-31 | 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 | RCV001418845 | SCV001621084 | likely benign | Bloom syndrome | 2023-12-04 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001418845 | SCV003831472 | uncertain significance | Bloom syndrome | 2022-11-02 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001418845 | SCV002089960 | likely benign | Bloom syndrome | 2018-06-26 | no assertion criteria provided | clinical testing |