Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000166619 | SCV000217423 | likely benign | Hereditary cancer-predisposing syndrome | 2014-10-28 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Gene |
RCV001704223 | SCV000292459 | likely benign | not provided | 2018-09-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000457831 | SCV000552764 | likely benign | Familial adenomatous polyposis 1 | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000457831 | SCV000785393 | likely benign | Familial adenomatous polyposis 1 | 2017-08-04 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000166619 | SCV000911737 | likely benign | Hereditary cancer-predisposing syndrome | 2016-10-31 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV002228969 | SCV004017980 | benign | Familial adenomatous polyposis 1 | 2023-02-16 | criteria provided, single submitter | clinical testing | This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing. |
All of Us Research Program, |
RCV003995519 | SCV004837908 | likely benign | Classic or attenuated familial adenomatous polyposis | 2023-10-02 | criteria provided, single submitter | clinical testing |