Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000546222 | SCV000635802 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-10-23 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000773091 | SCV000906536 | likely benign | Hereditary cancer-predisposing syndrome | 2016-05-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000773091 | SCV001172463 | likely benign | Hereditary cancer-predisposing syndrome | 2019-02-25 | 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. |