Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000563034 | SCV000668401 | likely benign | Hereditary cancer-predisposing syndrome | 2016-01-20 | 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 | RCV001416566 | SCV001618748 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-10-07 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000875220 | SCV002049309 | likely benign | not provided | 2020-12-30 | criteria provided, single submitter | clinical testing |