Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001189521 | SCV001356831 | likely benign | Hereditary cancer-predisposing syndrome | 2018-12-14 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV004564639 | SCV001707855 | likely benign | Familial adenomatous polyposis 1 | 2025-01-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001189521 | SCV002695836 | likely benign | Hereditary cancer-predisposing syndrome | 2020-11-03 | 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. |
Myriad Genetics, |
RCV004564639 | SCV004932761 | benign | Familial adenomatous polyposis 1 | 2024-03-01 | 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. |
Breakthrough Genomics, |
RCV004706069 | SCV005226813 | likely benign | not provided | criteria provided, single submitter | not provided |