Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000473377 | SCV000550191 | likely benign | Fanconi anemia complementation group O | 2024-09-18 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000473377 | SCV001140712 | likely benign | Fanconi anemia complementation group O | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001011704 | SCV001172057 | likely benign | Hereditary cancer-predisposing syndrome | 2019-09-27 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Color Diagnostics, |
RCV001011704 | SCV001348040 | likely benign | Hereditary cancer-predisposing syndrome | 2021-05-18 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003221990 | SCV003917953 | likely benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | RAD51C: BP4 |