Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000582089 | SCV000689672 | likely benign | Hereditary cancer-predisposing syndrome | 2015-11-25 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001284482 | SCV001470309 | likely benign | not provided | 2019-09-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001478392 | SCV001682663 | likely benign | Familial cancer of breast | 2023-07-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000582089 | SCV002713628 | likely benign | Hereditary cancer-predisposing syndrome | 2021-08-07 | 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. |