Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001089309 | SCV000287586 | likely benign | Colorectal cancer, susceptibility to, 10 | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000575327 | SCV000671002 | likely benign | Hereditary cancer-predisposing syndrome | 2016-01-04 | 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. |
Gene |
RCV000227852 | SCV000727289 | likely benign | not provided | 2020-12-30 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000227852 | SCV001134644 | benign | not provided | 2019-03-22 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000575327 | SCV002534640 | likely benign | Hereditary cancer-predisposing syndrome | 2020-12-17 | criteria provided, single submitter | curation | |
Center for Genomic Medicine, |
RCV003493541 | SCV004242969 | likely benign | not specified | 2024-02-06 | criteria provided, single submitter | clinical testing |