Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000162657 | SCV000213097 | likely benign | Hereditary cancer-predisposing syndrome | 2015-11-30 | 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 |
RCV001284354 | SCV000516800 | likely benign | not provided | 2021-04-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003765012 | SCV000562663 | likely benign | Familial adenomatous polyposis 1 | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000162657 | SCV000686930 | likely benign | Hereditary cancer-predisposing syndrome | 2017-09-11 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001284354 | SCV001470099 | likely benign | not provided | 2020-02-12 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000162657 | SCV002533226 | likely benign | Hereditary cancer-predisposing syndrome | 2022-03-12 | criteria provided, single submitter | curation | |
All of Us Research Program, |
RCV003995209 | SCV004839786 | likely benign | Classic or attenuated familial adenomatous polyposis | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV004019952 | SCV004933226 | benign | Familial adenomatous polyposis 1 | 2024-03-18 | 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. |