Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001703719 | SCV000522519 | likely benign | not provided | 2020-03-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000477314 | SCV000561446 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000581135 | SCV000685321 | likely benign | Hereditary cancer-predisposing syndrome | 2017-05-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000581135 | SCV001177467 | likely benign | Hereditary cancer-predisposing syndrome | 2015-01-08 | 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001703719 | SCV004221192 | likely benign | not provided | 2022-10-03 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004000370 | SCV004840851 | likely benign | Lynch syndrome | 2024-02-05 | criteria provided, single submitter | clinical testing |