Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000221908 | SCV000278329 | likely benign | Hereditary cancer-predisposing syndrome | 2015-09-15 | 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 | RCV000527994 | SCV000660366 | likely benign | Fanconi anemia complementation group O | 2023-12-22 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000221908 | SCV000686369 | likely benign | Hereditary cancer-predisposing syndrome | 2016-12-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001705230 | SCV000728914 | likely benign | not provided | 2018-06-27 | criteria provided, single submitter | clinical testing |