Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000220331 | SCV000278486 | likely benign | Hereditary cancer-predisposing syndrome | 2015-09-13 | 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 |
RCV001719809 | SCV000279323 | likely benign | not provided | 2020-09-16 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016) |
Invitae | RCV000524195 | SCV000561513 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-07 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000662853 | SCV000785723 | likely benign | Lynch syndrome 5 | 2017-11-08 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV003323283 | SCV000837925 | benign | Hereditary nonpolyposis colon cancer | 2023-08-22 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000220331 | SCV000908437 | likely benign | Hereditary cancer-predisposing syndrome | 2018-05-08 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000662853 | SCV004019014 | benign | Lynch syndrome 5 | 2023-03-29 | criteria provided, single submitter | clinical testing | This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing. |
Ce |
RCV001719809 | SCV004146082 | likely benign | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | MSH6: BP4, BP7 |