Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000535184 | SCV000633631 | likely benign | Familial cancer of breast; Fanconi anemia complementation group J | 2023-12-05 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000777013 | SCV000912691 | likely benign | Hereditary cancer-predisposing syndrome | 2017-12-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000777013 | SCV004051401 | likely benign | Hereditary cancer-predisposing syndrome | 2023-06-22 | 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. |