Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000163517 | SCV000214075 | likely benign | Hereditary cancer-predisposing syndrome | 2015-02-28 | 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 | RCV000989960 | SCV000560780 | likely benign | Fanconi anemia complementation group O | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000989960 | SCV001140713 | likely benign | Fanconi anemia complementation group O | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000163517 | SCV002052337 | likely benign | Hereditary cancer-predisposing syndrome | 2021-04-20 | criteria provided, single submitter | clinical testing |