Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000462610 | SCV000561453 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000574808 | SCV000662353 | likely benign | Hereditary cancer-predisposing syndrome | 2016-01-25 | 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, |
RCV000574808 | SCV000685255 | likely benign | Hereditary cancer-predisposing syndrome | 2017-03-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001672794 | SCV001889093 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV003316619 | SCV004016009 | likely benign | Lynch syndrome 5 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004002156 | SCV004843846 | likely benign | Lynch syndrome | 2023-08-15 | criteria provided, single submitter | clinical testing |