Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000444879 | SCV000522763 | likely benign | not specified | 2015-12-29 | 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 | RCV000940322 | SCV001086183 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-10-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001010530 | SCV001170746 | likely benign | Hereditary cancer-predisposing syndrome | 2018-01-19 | 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, |
RCV001010530 | SCV001734325 | likely benign | Hereditary cancer-predisposing syndrome | 2020-09-27 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000444879 | SCV002065334 | likely benign | not specified | 2021-06-07 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV000444879 | SCV002760376 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004000377 | SCV004839822 | likely benign | Lynch syndrome | 2024-01-03 | criteria provided, single submitter | clinical testing |