Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003534495 | SCV000260460 | likely benign | Familial adenomatous polyposis 1 | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000206236 | SCV000528439 | likely benign | not provided | 2021-04-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000566938 | SCV000667414 | likely benign | Hereditary cancer-predisposing syndrome | 2016-03-30 | 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. |
Color Diagnostics, |
RCV000566938 | SCV000681647 | likely benign | Hereditary cancer-predisposing syndrome | 2016-10-29 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000206236 | SCV001133333 | benign | not provided | 2018-12-04 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000206236 | SCV002586070 | likely benign | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | APC: BP4, BP7 |