Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000429511 | SCV000525080 | likely benign | not specified | 2017-10-31 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Color Diagnostics, |
RCV000775900 | SCV000910384 | likely benign | Hereditary cancer-predisposing syndrome | 2018-08-17 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001092764 | SCV001249417 | likely benign | not provided | 2021-10-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003651822 | SCV001654443 | likely benign | Familial adenomatous polyposis 1 | 2023-03-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000775900 | SCV002664490 | likely benign | Hereditary cancer-predisposing syndrome | 2020-06-26 | 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. |