Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000985430 | SCV001133613 | uncertain significance | not provided | 2018-10-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002067566 | SCV002361882 | likely benign | Hereditary breast ovarian cancer syndrome | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002337038 | SCV002642270 | likely benign | Hereditary cancer-predisposing syndrome | 2021-08-09 | 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. |
Brotman Baty Institute, |
RCV001072315 | SCV001237674 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |