Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001020150 | SCV001181591 | likely benign | Hereditary cancer-predisposing syndrome | 2015-12-04 | 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, |
RCV001020150 | SCV001357178 | likely benign | Hereditary cancer-predisposing syndrome | 2019-06-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001455638 | SCV001659403 | likely benign | Familial cancer of breast; Fanconi anemia complementation group J | 2020-01-15 | criteria provided, single submitter | clinical testing |