Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000459287 | SCV000559219 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-11-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000564525 | SCV000669732 | likely benign | Hereditary cancer-predisposing syndrome | 2016-09-07 | 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, |
RCV000564525 | SCV001359796 | likely benign | Hereditary cancer-predisposing syndrome | 2019-06-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001643183 | SCV001860000 | likely benign | not provided | 2020-10-11 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV003316606 | SCV004015965 | likely benign | Lynch syndrome 1 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004002137 | SCV004824296 | likely benign | Lynch syndrome | 2022-12-16 | criteria provided, single submitter | clinical testing |