Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000163690 | SCV000214264 | likely benign | Hereditary cancer-predisposing syndrome | 2015-03-12 | 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 | RCV000196303 | SCV000253636 | likely benign | Fanconi anemia complementation group O | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001697089 | SCV000530362 | likely benign | not provided | 2019-10-09 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000163690 | SCV000686318 | likely benign | Hereditary cancer-predisposing syndrome | 2016-12-06 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000163690 | SCV002531788 | likely benign | Hereditary cancer-predisposing syndrome | 2020-11-06 | criteria provided, single submitter | curation | |
Fulgent Genetics, |
RCV002492648 | SCV002801711 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complementation group O | 2021-11-12 | criteria provided, single submitter | clinical testing |