Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000616376 | SCV000723453 | likely benign | not specified | 2017-10-03 | 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. |
Invitae | RCV001426904 | SCV001629565 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2022-03-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002436510 | SCV002754355 | likely benign | Hereditary cancer-predisposing syndrome | 2020-04-13 | 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. |
All of Us Research Program, |
RCV004002167 | SCV004825461 | likely benign | Lynch syndrome | 2023-05-04 | criteria provided, single submitter | clinical testing |