Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003764853 | SCV000166058 | likely benign | Familial adenomatous polyposis 1 | 2024-10-12 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000507547 | SCV000600152 | likely benign | not specified | 2017-06-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000562932 | SCV000667376 | likely benign | Hereditary cancer-predisposing syndrome | 2016-11-18 | 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. |
Color Diagnostics, |
RCV000562932 | SCV000681874 | likely benign | Hereditary cancer-predisposing syndrome | 2016-09-23 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003997386 | SCV004835687 | likely benign | Classic or attenuated familial adenomatous polyposis | 2023-12-01 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV003764853 | SCV005084034 | benign | Familial adenomatous polyposis 1 | 2024-04-10 | 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. |
True Health Diagnostics | RCV000562932 | SCV000693492 | likely benign | Hereditary cancer-predisposing syndrome | 2017-08-14 | no assertion criteria provided | clinical testing |