Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000127457 | SCV000171022 | benign | not specified | 2014-04-14 | 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 | RCV001080847 | SCV000625688 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000570894 | SCV000663436 | likely benign | Hereditary cancer-predisposing syndrome | 2015-03-03 | 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. |
Color Diagnostics, |
RCV000570894 | SCV000686236 | likely benign | Hereditary cancer-predisposing syndrome | 2015-04-14 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000679362 | SCV000806222 | likely benign | not provided | 2018-01-19 | criteria provided, single submitter | clinical testing |