Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000564716 | SCV000673018 | likely benign | Hereditary cancer-predisposing syndrome | 2017-07-14 | 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. |
Color Diagnostics, |
RCV000564716 | SCV000912784 | likely benign | Hereditary cancer-predisposing syndrome | 2017-12-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001466785 | SCV001670796 | likely benign | Hereditary breast ovarian cancer syndrome | 2021-04-21 | criteria provided, single submitter | clinical testing | |
Brotman Baty Institute, |
RCV001076450 | SCV001242209 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |