Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001019549 | SCV001180921 | likely benign | Hereditary cancer-predisposing syndrome | 2017-10-30 | 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. |
Ce |
RCV003393784 | SCV004133001 | likely benign | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | BRCA2: BP4, BP7 |
Invitae | RCV003645139 | SCV004506617 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-11-07 | criteria provided, single submitter | clinical testing |