Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000772545 | SCV000905725 | likely benign | Hereditary cancer-predisposing syndrome | 2018-04-17 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000781745 | SCV000920034 | likely benign | not specified | 2019-08-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000772545 | SCV001184687 | likely benign | Hereditary cancer-predisposing syndrome | 2018-01-03 | 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. |
Invitae | RCV001457271 | SCV001661070 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002067252 | SCV002497502 | likely benign | not provided | 2022-02-01 | criteria provided, single submitter | clinical testing |